ValueSet Comparison between http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease vs http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease

Messages

Metadata

Name	Value		Comments
compose.inactive
compose.lockedDate
copyright		Value Set includes a subset of the Orphanet Nomenclature Pack for codification which is released each year in July (https://www.orphadata.com/pack-nomenclature/). Countries that wish to translate the subset provided in this file should first check if an existing translation is available on Orphadata (either as part of the nomenclature pack or as one of the languages of the nomenclature alignment files) so as to not duplicate efforts. Translations into languages not already distributed by Orphanet should be validated by a medical doctor/committee to ensure their accuracy and the Orphanet Coordinating team should be notified (partnerships.orphanet@inserm.fr). Any modifications/updates a user wishes to make to an existing translation distributed by Orphanet should contact the Orphanet Coordinating Team (partnerships.orphanet@inserm.fr)	Added the item 'Value Set includes a subset of the Orphanet Nomenclature Pack for codification which is released each year in July (https://www.orphadata.com/pack-nomenclature/). Countries that wish to translate the subset provided in this file should first check if an existing translation is available on Orphadata (either as part of the nomenclature pack or as one of the languages of the nomenclature alignment files) so as to not duplicate efforts. Translations into languages not already distributed by Orphanet should be validated by a medical doctor/committee to ensure their accuracy and the Orphanet Coordinating team should be notified (partnerships.orphanet@inserm.fr). Any modifications/updates a user wishes to make to an existing translation distributed by Orphanet should contact the Orphanet Coordinating Team (partnerships.orphanet@inserm.fr)'
date	2024-04-18T18:49:12+02:00	2025-03-20T14:54:16+01:00	Values Differ
description	The Value Set is used to describe the problems and medication reasons.
experimental	false
immutable
jurisdiction
jurisdiction[0]	http://unstats.un.org/unsd/methods/m49/m49.htm#150
name	EHDSIRareDisease
publisher	MyHealth@Eu
purpose
status	draft	active	Values Differ
title	eHDSI Rare Disease
url	http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease
version	0.0.1	0.1.1	Values Differ

Definition

Item	Property		Value		Comments
include	urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5
Concept	10		48,XXYY syndrome
Concept	100		Ataxia-telangiectasia
Concept	1000		Ocular albinism with late-onset sensorineural deafness
Concept	100000		Reticular perineurioma
Concept	100001		Sclerosing perineurioma
Concept	100002		Extraneural perineurioma
Concept	100003		Intraneural perineurioma
Concept	100006		ABeta amyloidosis, Dutch type
Concept	100008		ACys amyloidosis
Concept	100011		Lissencephaly with cerebellar hypoplasia type A
Concept	100012		Lissencephaly with cerebellar hypoplasia type B
Concept	100013		Lissencephaly with cerebellar hypoplasia type C
Concept	100014		Lissencephaly with cerebellar hypoplasia type D
Concept	100015		Lissencephaly with cerebellar hypoplasia type E
Concept	100016		Lissencephaly with cerebellar hypoplasia type F
Concept	100019		Refractory anemia with excess blasts type 1	Myelodysplastic neoplasm with increased blasts type 1
Concept	100020		Refractory anemia with excess blasts type 2	Myelodysplastic neoplasm with increased blasts type 2
Concept	100021		Primary plasmacytoma of the bone
Concept	100022		Extramedullary soft tissue plasmacytoma
Concept	100024		Mu-heavy chain disease
Concept	100025		Alpha-heavy chain disease
Concept	100026		Gamma-heavy chain disease
Concept	100031		Hypoplastic amelogenesis imperfecta
Concept	100032		Hypocalcified amelogenesis imperfecta
Concept	100033		Hypomaturation amelogenesis imperfecta
Concept	100034		Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Concept	100035		Solitary necrotic nodule of the liver
Concept	100043		Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Concept	100044		Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Concept	100045		Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Concept	100046		Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Concept	100047		Esophageal duplication cyst
Concept	100048		Tubular duplication of the esophagus
Concept	100050		Hereditary angioedema type 1
Concept	100051		Hereditary angioedema type 2
Concept	100054		F12-related hereditary angioedema with normal C1Inh
Concept	100055		Acquired angioedema type 2
Concept	100056		Acquired angioedema type 1
Concept	100057		Renin-angiotensin-aldosterone system-blocker-induced angioedema
Concept	100067		Waterhouse-Friderichsen syndrome
Concept	100069		Semantic dementia
Concept	100070		Progressive non-fluent aphasia
Concept	100071		Mosaic trisomy 3
Concept	100073		Neurogenic thoracic outlet syndrome
Concept	100075		Neuroendocrine tumor of stomach
Concept	100078		Ileal neuroendocrine tumor
Concept	100079		Neuroendocrine neoplasm of appendix
Concept	100080		Neuroendocrine tumor of the colon
Concept	100081		Neuroendocrine tumor of the rectum
Concept	100082		Neuroendocrine tumor of anal canal
Concept	100083		Laryngeal neuroendocrine tumor
Concept	100084		Middle ear neuroendocrine tumor
Concept	100085		Primary hepatic neuroendocrine carcinoma
Concept	100086		Gallbladder neuroendocrine tumor
Concept	100093		Carcinoid syndrome
Concept	1001		2q37 microdeletion syndrome
Concept	1003		Scalp defects-postaxial polydactyly syndrome
Concept	1005		Alopecia-contractures-dwarfism-intellectual disability syndrome
Concept	1006		Alopecia antibody deficiency
Concept	1008		Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Concept	100924		Porphyria due to ALA dehydratase deficiency
Concept	100973		FRAXE intellectual disability
Concept	100974		FRAXF syndrome
Concept	100976		Bathing suit ichthyosis
Concept	100978		Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Concept	100984		Autosomal dominant spastic paraplegia type 3
Concept	100985		Autosomal dominant spastic paraplegia type 4
Concept	100986		Autosomal recessive spastic paraplegia type 5A
Concept	100988		Autosomal dominant spastic paraplegia type 6
Concept	100989		Autosomal dominant spastic paraplegia type 8
Concept	100991		Autosomal dominant spastic paraplegia type 10
Concept	100993		Autosomal dominant spastic paraplegia type 12
Concept	100994		Autosomal dominant spastic paraplegia type 13
Concept	100995		Autosomal recessive spastic paraplegia type 14
Concept	100996		Autosomal recessive spastic paraplegia type 15
Concept	100997		X-linked spastic paraplegia type 16
Concept	100998		Autosomal dominant spastic paraplegia type 17
Concept	100999		Autosomal dominant spastic paraplegia type 19
Concept	101		Dentatorubral pallidoluysian atrophy
Concept	1010		Autosomal dominant palmoplantar keratoderma and congenital alopecia
Concept	101000		Autosomal recessive spastic paraplegia type 20
Concept	101001		Autosomal recessive spastic paraplegia type 21
Concept	101003		Autosomal recessive spastic paraplegia type 23
Concept	101004		Autosomal recessive spastic paraplegia type 24
Concept	101005		Autosomal recessive spastic paraplegia type 25
Concept	101006		Autosomal recessive spastic paraplegia type 26
Concept	101007		Autosomal recessive spastic paraplegia type 27
Concept	101008		Autosomal recessive spastic paraplegia type 28
Concept	101009		Autosomal dominant spastic paraplegia type 29
Concept	101010		Autosomal spastic paraplegia type 30
Concept	101011		Autosomal dominant spastic paraplegia type 31
Concept	101016		Romano-Ward syndrome
Concept	101023		Cleft hard palate
Concept	101028		Transaldolase deficiency
Concept	101029		Sub-cortical nodular heterotopia
Concept	101030		Subependymal nodular heterotopia
Concept	101039		Female restricted epilepsy with intellectual disability
Concept	101041		Familial hypofibrinogenemia
Concept	101043		Congenital aortic valve dysplasia
Concept	101046		Autosomal dominant epilepsy with auditory features
Concept	101049		Familial hypocalciuric hypercalcemia type 2
Concept	101050		Familial hypocalciuric hypercalcemia type 3
Concept	101063		Situs inversus totalis
Concept	101068		Congenital stromal corneal dystrophy
Concept	101070		Bilateral frontoparietal polymicrogyria
Concept	101071		Unilateral hemispheric polymicrogyria
Concept	101075		X-linked Charcot-Marie-Tooth disease type 1
Concept	101076		X-linked Charcot-Marie-Tooth disease type 2
Concept	101077		X-linked Charcot-Marie-Tooth disease type 3
Concept	101078		X-linked Charcot-Marie-Tooth disease type 4
Concept	101081		Charcot-Marie-Tooth disease type 1A
Concept	101082		Charcot-Marie-Tooth disease type 1B
Concept	101083		Charcot-Marie-Tooth disease type 1C
Concept	101084		Charcot-Marie-Tooth disease type 1D
Concept	101085		Charcot-Marie-Tooth disease type 1F
Concept	101088		X-linked hyper-IgM syndrome
Concept	101089		Hyper-IgM syndrome type 2
Concept	101090		Hyper-IgM syndrome type 3
Concept	101091		Hyper-IgM syndrome type 4
Concept	101092		Hyper-IgM syndrome type 5
Concept	101096		Version: Aregenerative anemia		Removed this Concept
Concept	101097		Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Concept	101101		Charcot-Marie-Tooth disease type 2B2
Concept	101102		Charcot-Marie-Tooth disease type 2H
Concept	101104		Marin-Amat syndrome
Concept	101108		Spinocerebellar ataxia type 23
Concept	101109		Spinocerebellar ataxia type 28
Concept	101110		Spinocerebellar ataxia type 20
Concept	101111		Spinocerebellar ataxia type 25
Concept	101112		Spinocerebellar ataxia type 26
Concept	101150		Autosomal recessive dopa-responsive dystonia
Concept	101206		Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Concept	101330		Porphyria cutanea tarda
Concept	101334		African tick typhus
Concept	101351		Familial isolated congenital asplenia
Concept	1014		Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Concept	101685		Rare non-syndromic intellectual disability
Concept	1018		X-linked Alport syndrome-diffuse leiomyomatosis
Concept	101932		Anomaly of the mitral subvalvular apparatus
Concept	102		Multiple system atrophy
Concept	1020		Early-onset autosomal dominant Alzheimer disease
Concept	1021		Amaurosis-hypertrichosis syndrome
Concept	1023		Congenital generalized hypertrichosis, Ambras type
Concept	102379		Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Concept	102381		Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Concept	1027		Autosomal recessive amelia
Concept	102724		Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Concept	1028		Amelo-onycho-hypohidrotic syndrome
Concept	1031		Enamel-renal syndrome
Concept	1035		Beta-mercaptolactate cysteine disulfiduria
Concept	103907		Chronic diarrhea due to glucoamylase deficiency
Concept	103908		Congenital sodium diarrhea
Concept	103909		Trehalase deficiency
Concept	103910		Congenital enterocyte heparan sulfate deficiency
Concept	103918		Tropical pancreatitis
Concept	103920		Undetermined colitis
Concept	104		Leber hereditary optic neuropathy
Concept	1040		Metaphyseal anadysplasia
Concept	104075		Adenocarcinoma of the small intestine
Concept	104076		Leiomyosarcoma of small intestine
Concept	104077		Myopathic intestinal pseudoobstruction
Concept	104078		Unclassified intestinal pseudoobstruction
Concept	1041		Hydrops fetalis
Concept	1046		Lethal hemolytic anemia-genital anomalies syndrome
Concept	1048		Isolated anencephaly/exencephaly
Concept	105		Atresia of urethra
Concept	1051		Ramos-Arroyo syndrome
Concept	1052		Mosaic variegated aneuploidy syndrome
Concept	1053		Vein of Galen aneurysmal malformation
Concept	1054		Aneurysm of sinus of Valsalva
Concept	1055		Congenital left ventricular aneurysm
Concept	1059		Blue rubber bleb nevus
Concept	1062		Hereditary neurocutaneous malformation
Concept	1063		Tufted angioma
Concept	1064		Aniridia-renal agenesis-psychomotor retardation syndrome
Concept	1065		Aniridia-cerebellar ataxia-intellectual disability syndrome
Concept	1067		Aniridia-ptosis-intellectual disability-familial obesity syndrome
Concept	1068		Aniridia-intellectual disability syndrome
Concept	1069		Aniridia-absent patella syndrome
Concept	107		BOR syndrome
Concept	1070		Anisakiasis
Concept	1071		Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Concept	1072		Ankyloblepharon filiforme adnatum-cleft palate syndrome
Concept	1074		Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Concept	1077		Dental ankylosis
Concept	1078		Thumb stiffness-brachydactyly-intellectual disability syndrome
Concept	108		Babesiosis
Concept	1083		Microlissencephaly
Concept	1084		Isolated lissencephaly type 1 without known genetic defects
Concept	109		Bannayan-Riley-Ruvalcaba syndrome
Concept	1094		Anonychia-microcephaly syndrome
Concept	11		Pentasomy X
Concept	110		Bardet-Biedl syndrome
Concept	1101		Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Concept	1104		Anophthalmia plus syndrome
Concept	1106		Microphthalmia with limb anomalies
Concept	111		Barth syndrome
Concept	1110		Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Concept	1112		Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Concept	1113		Aphalangy-syndactyly-microcephaly syndrome
Concept	1114		Aplasia cutis congenita
Concept	1116		Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Concept	1117		Aplasia cutis-myopia syndrome
Concept	1118		Fibular aplasia-ectrodactyly syndrome
Concept	112		Bartter syndrome
Concept	1120		Lung agenesis-heart defect-thumb anomalies syndrome
Concept	1121		Radial deficiency-tibial hypoplasia syndrome
Concept	1122		Ulnar hypoplasia-split foot syndrome
Concept	1123		Caudal appendage-deafness syndrome
Concept	1125		Ocular motor apraxia, Cogan type
Concept	1126		Aprosencephaly cerebellar dysgenesis
Concept	1129		Arachnodactyly-abnormal ossification-intellectual disability syndrome
Concept	113		Bazex-Dupré-Christol syndrome
Concept	1130		Arachnodactyly-intellectual disability-dysmorphism syndrome
Concept	1131		X-linked mandibulofacial dysostosis
Concept	1133		AREDYLD syndrome
Concept	1134		Isolated arrhinia
Concept	1135		Arrhinia-choanal atresia-microphthalmia syndrome
Concept	114		Auriculoosteodysplasia
Concept	1143		Neurogenic arthrogryposis multiplex congenita
Concept	1144		Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Concept	1145		Infantile-onset X-linked spinal muscular atrophy
Concept	1146		Distal arthrogryposis type 1
Concept	1147		Sheldon-Hall syndrome
Concept	1149		Kuskokwim syndrome
Concept	115		Congenital contractural arachnodactyly
Concept	1150		Arthrogryposis multiplex congenita-whistling face syndrome
Concept	1154		Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Concept	1159		Progressive pseudorheumatoid arthropathy of childhood
Concept	116		Beckwith-Wiedemann syndrome
Concept	1160		Chylous ascites
Concept	1163		Aspergillosis
Concept	1164		Allergic bronchopulmonary aspergillosis
Concept	1166		Congenital unilateral hypoplasia of depressor anguli oris
Concept	1168		Ataxia-oculomotor apraxia type 1
Concept	117		Behçet disease
Concept	1170		Autosomal recessive cerebelloparenchymal disorder type 3
Concept	1171		Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Concept	1173		Cerebellar ataxia-hypogonadism syndrome
Concept	1174		Cerebellar ataxia-ectodermal dysplasia syndrome
Concept	1175		X-linked progressive cerebellar ataxia
Concept	1177		Early-onset cerebellar ataxia with retained tendon reflexes
Concept	1178		Ataxia-tapetoretinal degeneration syndrome
Concept	1179		Benign paroxysmal tonic upgaze of childhood with ataxia
Concept	118		Beta-mannosidosis
Concept	1180		Ataxia-hypogonadism-choroidal dystrophy syndrome
Concept	1182		Spastic ataxia with congenital miosis
Concept	1183		Opsoclonus-myoclonus syndrome
Concept	1184		Ataxia-photosensitivity-short stature syndrome
Concept	1185		Spinocerebellar ataxia-dysmorphism syndrome
Concept	1186		Infantile-onset spinocerebellar ataxia
Concept	1187		Lethal ataxia with deafness and optic atrophy
Concept	1188		Ataxia-deafness-intellectual disability syndrome
Concept	119		Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Concept	1190		Atelosteogenesis type I
Concept	1192		Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Concept	1193		Atkin-Flaitz syndrome
Concept	1194		TMEM70-related mitochondrial encephalo-cardio-myopathy
Concept	1195		Congenital atransferrinemia
Concept	1198		Colonic atresia
Concept	1199		Esophageal atresia
Concept	1200		Burn-McKeown syndrome
Concept	1201		Small bowel atresia
Concept	1202		Larynx atresia
Concept	1203		Duodenal atresia
Concept	1205		Mitral atresia
Concept	1207		Pulmonary atresia with ventricular septal defect
Concept	1208		Pulmonary atresia-intact ventricular septum syndrome
Concept	1209		Tricuspid atresia
Concept	1214		Progressive hemifacial atrophy
Concept	1215		Autosomal dominant optic atrophy plus syndrome
Concept	1216		Autosomal dominant congenital benign spinal muscular atrophy
Concept	1217		Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Concept	122		Birt-Hogg-Dubé syndrome
Concept	1221		Cheilitis glandularis
Concept	1223		Balantidiasis
Concept	1225		Baller-Gerold syndrome
Concept	1226		Bamforth-Lazarus syndrome
Concept	1227		Bangstad syndrome
Concept	1228		Banki syndrome
Concept	1229		Congenital intrauterine infection-like syndrome
Concept	123		Björnstad syndrome
Concept	1231		Barber-Say syndrome
Concept	1234		Bartsocas-Papas syndrome
Concept	1236		Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Concept	1237		Beemer-Ertbruggen syndrome
Concept	124		Diamond-Blackfan anemia
Concept	1240		Version: Metaphyseal acroscyphodysplasia		Removed this Concept
Concept	1241		Bencze syndrome
Concept	1243		Best vitelliform macular dystrophy
Concept	1246		Brachydactyly-nystagmus-cerebellar ataxia syndrome
Concept	1247		Schistosomiasis
Concept	1248		Maxillonasal dysplasia
Concept	125		Bloom syndrome
Concept	1252		Blepharonasofacial malformation syndrome
Concept	1253		Ascher syndrome
Concept	1259		Blepharoptosis-myopia-ectopia lentis syndrome
Concept	126		Blepharophimosis-ptosis-epicanthus inversus syndrome
Concept	1261		Bonnemann-Meinecke-Reich syndrome
Concept	1262		Böök syndrome
Concept	1263		Boomerang dysplasia
Concept	1264		Tricho-retino-dento-digital syndrome
Concept	1267		Botulism
Concept	127		Borjeson-Forssman-Lehmann syndrome
Concept	1270		Bowen-Conradi syndrome
Concept	1272		Aymé-Gripp syndrome
Concept	1275		Brachydactyly-elbow wrist dysplasia syndrome
Concept	1276		Brachydactyly-arterial hypertension syndrome
Concept	1277		Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Concept	1278		Brachydactyly-preaxial hallux varus syndrome
Concept	128		Diphyllobothriasis
Concept	129		Pseudopelade of Brocq
Concept	1292		Brachymorphism-onychodysplasia-dysphalangism syndrome
Concept	1295		Brachytelephalangy-dysmorphism-Kallmann syndrome
Concept	1296		Lambert syndrome
Concept	1297		Branchio-oculo-facial syndrome
Concept	1299		Branchioskeletogenital syndrome
Concept	13		6-pyruvoyl-tetrahydropterin synthase deficiency
Concept	130		Brugada syndrome
Concept	1300		Autosomal dominant popliteal pterygium syndrome
Concept	1302		Cryptogenic organizing pneumonia
Concept	1303		Version: Bronchiolitis obliterans with obstructive pulmonary disease		Removed this Concept
Concept	1304		Brucellosis
Concept	1305		Feingold syndrome
Concept	1307		Distal limb deficiencies-micrognathia syndrome
Concept	1308		C syndrome
Concept	1309		Medullary sponge kidney
Concept	131		Budd-Chiari syndrome
Concept	1310		Caffey disease
Concept	1313		Infantile choroidocerebral calcification syndrome
Concept	1314		Symmetrical thalamic calcifications
Concept	1318		Campomelia, Cumming type
Concept	1319		Camptobrachydactyly
Concept	132		Butyrylcholinesterase deficiency	Hereditary butyrylcholinesterase deficiency
Concept	1320		Idiopathic camptocormia
Concept	1321		Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Concept	1323		Camptodactyly-joint contractures-facial skeletal defects syndrome
Concept	1325		Camptodactyly-taurinuria syndrome
Concept	1326		Camptodactyly syndrome, Guadalajara type 2
Concept	1327		Camptodactyly syndrome, Guadalajara type 1
Concept	1328		Camurati-Engelmann disease
Concept	1329		Complete atrioventricular septal defect
Concept	133		Chronic beryllium disease
Concept	1330		Partial atrioventricular septal defect
Concept	1331		Familial prostate cancer
Concept	1332		Medullary thyroid carcinoma
Concept	1333		Familial pancreatic carcinoma
Concept	1334		Chronic mucocutaneous candidiasis
Concept	1335		Pentalogy of Cantrell
Concept	1336		Hyperkeratosis-hyperpigmentation syndrome
Concept	1338		Heart defect-tongue hamartoma-polysyndactyly syndrome
Concept	134		Beta-ketothiolase deficiency
Concept	1340		Cardiofaciocutaneous syndrome
Concept	1342		Heart-hand syndrome type 3
Concept	1344		Atrial standstill
Concept	1345		Cardiomyopathy-cataract-hip spine disease syndrome
Concept	1349		Mitochondrial DNA-related cardiomyopathy and hearing loss
Concept	135		CACH syndrome
Concept	1350		Heart-hand syndrome type 2
Concept	1352		Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Concept	1354		Heart defects-limb shortening syndrome
Concept	1355		Congenital heart defect-round face-developmental delay syndrome
Concept	1358		Carey-Fineman-Ziter syndrome
Concept	1359		Carney complex
Concept	136		Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Concept	1361		Carnosinase deficiency
Concept	1366		Autosomal recessive palmoplantar keratoderma and congenital alopecia
Concept	1368		Cataract-ataxia-deafness syndrome
Concept	1369		Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Concept	1373		Cataract-aberrant oral frenula-growth delay syndrome
Concept	1375		Cataract-hypertrichosis-intellectual disability syndrome
Concept	137577		Neonatal hypoxic and ischemic brain injury
Concept	137583		Vulvar intraepithelial neoplasia
Concept	137593		Infectious epithelial keratitis
Concept	137596		Neurotrophic keratopathy
Concept	137599		Herpes simplex virus stromal keratitis
Concept	137602		Corneal endotheliitis
Concept	137605		Legius syndrome
Concept	137608		Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Concept	137617		Nephrogenic systemic fibrosis
Concept	137622		Intractable diarrhea-choanal atresia-eye anomalies syndrome
Concept	137625		Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Concept	137628		Cardiac anomalies-heterotaxy syndrome
Concept	137631		Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Concept	137634		Overgrowth-macrocephaly-facial dysmorphism syndrome
Concept	137639		Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Concept	137667		Capillary malformation-arteriovenous malformation
Concept	137672		Pellucid marginal degeneration
Concept	137675		Histiocytoid cardiomyopathy
Concept	137678		Spondyloepiphyseal dysplasia with metatarsal shortening
Concept	137681		Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Concept	137686		Asherman syndrome
Concept	137698		Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
Concept	1377		Cataract-microcornea syndrome
Concept	137754		Neurological conditions associated with aminoacylase 1 deficiency	Aminoacylase 1 deficiency
Concept	137776		Lethal congenital contracture syndrome type 2
Concept	137783		Lethal congenital contracture syndrome type 3
Concept	137810		Nodular cutaneous amyloidosis
Concept	137814		Macular amyloidosis
Concept	137817		Arachnoiditis
Concept	137820		Extrapelvic endometriosis
Concept	137831		X-linked intellectual disability-cerebellar hypoplasia syndrome
Concept	137834		Frank-Ter Haar syndrome
Concept	137839		Lemierre syndrome
Concept	137867		Madras motor neuron disease
Concept	137888		Auriculocondylar syndrome
Concept	137893		Male infertility due to large-headed multiflagellar polyploid spermatozoa
Concept	137898		Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Concept	137908		Hypotonia with lactic acidemia and hyperammonemia
Concept	137914		Choanal atresia
Concept	137917		Choanal atresia, unilateral
Concept	137920		Choanal atresia, bilateral
Concept	137926		Primary laryngeal lymphangioma
Concept	137929		Neonatal brainstem dysfunction
Concept	137932		Congenital laryngeal palsy
Concept	137935		Laryngotracheal angioma	Airway infantile hemangioma
Concept	138		CHARGE syndrome
Concept	1380		Cataract-nephropathy-encephalopathy syndrome
Concept	1381		Cataract-intellectual disability-anal atresia-urinary defects syndrome
Concept	1383		Cataract-deafness-hypogonadism syndrome
Concept	1387		Cataract-intellectual disability-hypogonadism syndrome
Concept	1388		Catel-Manzke syndrome
Concept	1389		Cortical blindness-intellectual disability-polydactyly syndrome
Concept	139		CHILD syndrome
Concept	1390		Night blindness-skeletal anomalies-dysmorphism syndrome
Concept	1393		Cerebrocostomandibular syndrome
Concept	139396		X-linked cerebral adrenoleukodystrophy
Concept	139399		Adrenomyeloneuropathy
Concept	1394		Cerebrofaciothoracic dysplasia
Concept	139402		Drug reaction with eosinophilia and systemic symptoms
Concept	139406		Encephalopathy due to prosaposin deficiency
Concept	139411		Carney triad
Concept	139414		Congenital panfollicular nevus
Concept	139417		Acute transverse myelitis
Concept	139423		Idiopathic acute transverse myelitis
Concept	139426		Perioral myoclonia with absences
Concept	139431		Jeavons syndrome	Epilepsy with eyelid myoclonia
Concept	139436		Multicentric reticulohistiocytosis
Concept	139441		Hypomyelination with atrophy of basal ganglia and cerebellum
Concept	139444		Leukoencephalopathy with bilateral anterior temporal lobe cysts
Concept	139447		Progressive cavitating leukoencephalopathy
Concept	139450		Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Concept	139455		Autosomal recessive bestrophinopathy
Concept	139466		SERKAL syndrome
Concept	139471		Microphthalmia with brain and digit anomalies
Concept	139474		17q11.2 microduplication syndrome
Concept	139480		Autosomal recessive spastic paraplegia type 39
Concept	139485		Autosomal recessive ataxia due to ubiquinone deficiency
Concept	139507		Dietary iron overload disease
Concept	139512		Neuropathy with hearing impairment
Concept	139515		Charcot-Marie-Tooth disease type 4J
Concept	139518		Distal hereditary motor neuropathy type 1
Concept	139525		Distal hereditary motor neuropathy type 2
Concept	139536		Distal hereditary motor neuropathy type 5
Concept	139547		Distal spinal muscular atrophy type 3
Concept	139552		Distal hereditary motor neuropathy, Jerash type
Concept	139557		X-linked distal spinal muscular atrophy type 3
Concept	139564		Hereditary sensory and autonomic neuropathy type 1B
Concept	139573		Hereditary sensory and autonomic neuropathy with deafness and global delay
Concept	139578		Mutilating hereditary sensory neuropathy with spastic paraplegia
Concept	139583		X-linked hereditary sensory and autonomic neuropathy with deafness
Concept	139589		Distal hereditary motor neuropathy type 7
Concept	1397		Hydrocephaly-cerebellar agenesis syndrome
Concept	1398		Isolated cerebellar agenesis
Concept	1399		Richards-Rundle syndrome
Concept	14		Abetalipoproteinemia
Concept	140		Campomelic dysplasia
Concept	1401		CHAND syndrome
Concept	140286		Secondary hypoparathyroidism due to impaired parathormon secretion
Concept	140436		Primary intraosseous venous malformation
Concept	140481		Autosomal dominant slowed nerve conduction velocity
Concept	1406		Charlie M syndrome
Concept	140896		Severe acute respiratory syndrome
Concept	140905		Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Concept	140908		Brachydactyly type B2
Concept	140917		Stapes ankylosis with broad thumbs and toes
Concept	140922		Titin-related limb-girdle muscular dystrophy R10
Concept	140927		Benign familial neonatal-infantile seizures
Concept	140933		Linear atrophoderma of Moulin
Concept	140936		Lelis syndrome
Concept	140941		Short stature due to primary acid-labile subunit deficiency
Concept	140944		CLOVES syndrome
Concept	140949		Low-flow priapism
Concept	140952		Syndactyly-telecanthus-anogenital and renal malformations syndrome
Concept	140957		Autosomal dominant macrothrombocytopenia
Concept	140963		Bilateral microtia-deafness-cleft palate syndrome
Concept	140966		Palmoplantar keratoderma, Nagashima type
Concept	140969		Saldino-Mainzer syndrome
Concept	140976		RHYNS syndrome
Concept	140989		Primary angiitis of the central nervous system
Concept	141		Canavan disease
Concept	1410		Uncombable hair syndrome
Concept	141000		Orofaciodigital syndrome type 11
Concept	141007		Orofaciodigital syndrome type 9
Concept	141013		First branchial cleft anomaly
Concept	141022		Second branchial cleft anomaly
Concept	141030		Third branchial cleft anomaly
Concept	141037		Fourth branchial cleft anomaly
Concept	141046		Cervical dermoid cyst
Concept	141051		Facial dermoid cyst
Concept	141061		Commissural lip fistula
Concept	141064		Lower lip fistula
Concept	141067		Cervicofacial fibrochondroma
Concept	141071		Digestive duplication cyst of the tongue
Concept	141074		External auditory canal aplasia/hypoplasia
Concept	141077		Epignathus
Concept	141083		Nasolacrimal duct cyst
Concept	141091		Polyrrhinia
Concept	141096		Supernumerary nostril
Concept	141099		Proboscis lateralis
Concept	141103		Nasal dermoid cyst
Concept	141107		Nasopharyngeal teratoma
Concept	141112		Nasal glial heterotopia
Concept	141115		Nasal ganglioglioma
Concept	141118		Nasal encephalocele
Concept	141121		Congenital subglottic stenosis
Concept	141124		Congenital laryngeal cyst
Concept	141127		Congenital tracheal stenosis
Concept	141132		Oculo-auriculo-vertebral spectrum
Concept	141145		Hemifacial hyperplasia
Concept	141148		Hemifacial myohyperplasia
Concept	141152		Isolated congenital hypoglossia/aglossia
Concept	141163		Glossopalatine ankylosis
Concept	141168		Frontonasal arteriovenous malformation
Concept	141171		Maxillary arteriovenous malformation
Concept	141174		Mandibular arteriovenous malformation
Concept	141179		Non-involuting congenital hemangioma
Concept	141184		Rapidly involuting congenital hemangioma
Concept	141194		Cerebrofacial arteriovenous metameric syndrome type 1
Concept	141199		Cerebrofacial arteriovenous metameric syndrome type 3
Concept	1412		Tarsal-carpal coalition syndrome
Concept	141209		Diffuse lymphatic malformation
Concept	141214		Isolated congenital syngnathia
Concept	141219		Nasal dorsum fistula
Concept	141239		Median cleft of the upper lip and maxilla
Concept	141242		Paramedian nasal cleft
Concept	141258		Tessier number 4 facial cleft
Concept	141261		Tessier number 5 facial cleft
Concept	141265		Tessier number 6 facial cleft
Concept	141276		Tessier number 7 facial cleft
Concept	141288		Midline cervical cleft
Concept	141291		Cleft lip and alveolus
Concept	141327		Version: Orofaciodigital syndrome type 12		Removed this Concept
Concept	141330		Version: Orofaciodigital syndrome type 13		Removed this Concept
Concept	141333		Biemond syndrome type 2
Concept	1414		Cholestasis-lymphedema syndrome
Concept	1415		Cholestasis-pigmentary retinopathy-cleft palate syndrome	Hardikar syndrome
Concept	1416		Familial calcium pyrophosphate deposition
Concept	142		Anaplastic thyroid carcinoma
Concept	1422		Chondrodysplasia-difference of sex development syndrome
Concept	1423		Lethal recessive chondrodysplasia
Concept	1425		Desbuquois syndrome
Concept	1426		Greenberg dysplasia
Concept	1427		Otospondylomegaepiphyseal dysplasia
Concept	1429		Benign hereditary chorea
Concept	143		Parathyroid carcinoma
Concept	1433		Choroidal atrophy-alopecia syndrome
Concept	1435		Xq21 microdeletion syndrome
Concept	1436		X-linked skeletal dysplasia-intellectual disability syndrome
Concept	1437		Ring chromosome 1 syndrome
Concept	1438		Ring chromosome 10 syndrome
Concept	1439		Ring chromosome 12 syndrome
Concept	144		Lynch syndrome
Concept	1440		Ring chromosome 14 syndrome
Concept	1441		Ring chromosome 17 syndrome
Concept	1442		Ring chromosome 18 syndrome
Concept	1443		Ring chromosome 19 syndrome
Concept	1444		Ring chromosome 20 syndrome
Concept	1445		Ring chromosome 21 syndrome
Concept	1446		Ring chromosome 22 syndrome
Concept	1447		Ring chromosome 4 syndrome
Concept	1448		Ring chromosome 6 syndrome
Concept	1449		Ring chromosome 7 syndrome
Concept	145		Hereditary breast and/or ovarian cancer syndrome
Concept	1450		Ring chromosome 8 syndrome
Concept	1451		CINCA syndrome
Concept	1452		Cleidocranial dysplasia
Concept	1453		Cleidorhizomelic syndrome
Concept	1454		Joubert syndrome with hepatic defect
Concept	1455		Version: Autosomal dominant coarctation of aorta		Removed this Concept
Concept	1456		Atypical coarctation of aorta	Middle aortic syndrome
Concept	1457		Aorta coarctation
Concept	1458		CODAS syndrome
Concept	1459		Celiac disease-epilepsy-cerebral calcification syndrome
Concept	146		Differentiated thyroid carcinoma
Concept	1460		Isolated complex III deficiency
Concept	1461		Criss-cross heart
Concept	1464		Univentricular heart
Concept	1465		Coffin-Siris syndrome
Concept	1466		COFS syndrome
Concept	1467		Cogan syndrome
Concept	147		Carbamoyl-phosphate synthetase 1 deficiency
Concept	1471		Coloboma of macula-brachydactyly type B syndrome
Concept	1473		Uveal coloboma-cleft lip and palate-intellectual disability
Concept	1475		Renal coloboma syndrome
Concept	1478		Interatrial communication
Concept	1479		Atrial septal defect-atrioventricular conduction defects syndrome
Concept	1482		Gonococcal conjunctivitis
Concept	1484		Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Concept	1485		Arthrogryposis-hyperkeratosis syndrome, lethal form
Concept	1486		Lethal congenital contracture syndrome type 1
Concept	1487		Cooks syndrome
Concept	1488		Cooper-Jabs syndrome
Concept	1489		Whooping cough
Concept	1490		Corneal dystrophy-perceptive deafness syndrome
Concept	1493		Vici syndrome
Concept	1495		Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Concept	1496		Corpus callosum agenesis-neuronopathy syndrome
Concept	1497		X-linked complicated corpus callosum dysgenesis
Concept	15		Achondroplasia
Concept	150		Nasopharyngeal carcinoma
Concept	1501		Adrenocortical carcinoma
Concept	1506		Thin ribs-tubular bones-dysmorphism syndrome
Concept	1507		Autosomal recessive Robinow syndrome
Concept	1508		Coxoauricular syndrome
Concept	1509		Coxopodopatellar syndrome
Concept	1512		Crane-Heise syndrome
Concept	1513		Craniodiaphyseal dysplasia
Concept	1514		Craniodigital-intellectual disability syndrome
Concept	1515		Cranioectodermal dysplasia
Concept	1516		Non-syndromic bilambdoid and sagittal craniosynostosis
Concept	1517		Cantú syndrome
Concept	1519		SPECC1L-related hypertelorism syndrome
Concept	1520		Craniofrontonasal dysplasia
Concept	1521		Craniofrontonasal dysplasia-Poland anomaly syndrome
Concept	1522		Craniometaphyseal dysplasia
Concept	1524		Craniomicromelic syndrome
Concept	1525		Cranio-osteoarthropathy
Concept	1527		Craniosynostosis, Philadelphia type
Concept	1528		Craniotelencephalic dysplasia
Concept	1529		Craniofacial-deafness-hand syndrome
Concept	1532		Gómez-López-Hernández syndrome
Concept	1538		Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Concept	154		Familial isolated dilated cardiomyopathy
Concept	1540		Jackson-Weiss syndrome
Concept	1541		Craniosynostosis, Boston type
Concept	1544		Benign focal seizures of adolescence
Concept	1545		Crisponi syndrome
Concept	1546		Cryptococcosis
Concept	1547		Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Concept	1548		Cryptorchidism-arachnodactyly-intellectual disability syndrome
Concept	1551		Familial benign copper deficiency
Concept	1552		Currarino syndrome
Concept	1553		Curry-Jones syndrome
Concept	1555		Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Concept	1556		Cutis marmorata telangiectatica congenita
Concept	155838		Pinnae fistula or cyst
Concept	155878		Submucosal cleft palate
Concept	155884		Coloboma of superior eyelid
Concept	155889		Coloboma of inferior eyelid
Concept	156		Carnitine palmitoyl transferase 1A deficiency
Concept	1560		Cysticercosis
Concept	1561		Fatal infantile cytochrome C oxidase deficiency
Concept	1562		Version: Dacryocystitis-osteopoikilosis syndrome		Removed this Concept
Concept	1563		Dahlberg-Borer-Newcomer syndrome
Concept	1566		Dandy-Walker malformation-postaxial polydactyly syndrome
Concept	156728		Spondyloepimetaphyseal dysplasia, matrilin-3 type
Concept	156731		Dyssegmental dysplasia, Rolland-Desbuquois type
Concept	1568		X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Concept	157		Carnitine palmitoyltransferase II deficiency
Concept	1570		Symbrachydactyly of hands and feet
Concept	1571		Knobloch syndrome
Concept	1572		Common variable immunodeficiency
Concept	157215		Hereditary hypophosphatemic rickets with hypercalciuria
Concept	1573		Hypotrichosis with juvenile macular degeneration
Concept	1574		Retinal degeneration-nanophthalmos-glaucoma syndrome
Concept	157713		Congenital or early infantile CACH syndrome
Concept	157716		Late infantile CACH syndrome
Concept	157719		Juvenile or adult CACH syndrome
Concept	157769		Situs ambiguus
Concept	157791		Epithelioid hemangioendothelioma
Concept	157794		Hereditary mixed polyposis syndrome
Concept	157798		Serrated polyposis syndrome
Concept	1578		Pterin-4 alpha-carbinolamine dehydratase deficiency
Concept	157801		Mesoaxial synostotic syndactyly with phalangeal reduction
Concept	157808		Congenital pseudoarthrosis of the limbs	Isolated pseudoarthrosis of the limbs
Concept	157820		Cold-induced sweating syndrome
Concept	157823		Klüver-Bucy syndrome
Concept	157826		Congenital epulis
Concept	157832		Craniorhiny
Concept	157835		Paroxysmal hemicrania
Concept	157846		Neuroferritinopathy
Concept	157850		Pantothenate kinase-associated neurodegeneration
Concept	157941		Huntington disease-like 1
Concept	157946		Huntington disease-like 3
Concept	157949		Combined immunodeficiency with granulomatosis
Concept	157954		ANE syndrome
Concept	157962		Oculoauricular syndrome, Schorderet type
Concept	157965		SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Concept	157973		Congenital muscular dystrophy due to LMNA mutation
Concept	157991		Generalized eruptive histiocytosis
Concept	157997		Benign cephalic histiocytosis
Concept	158		Systemic primary carnitine deficiency
Concept	1580		Distal deletion 10p
Concept	158000		Juvenile xanthogranuloma
Concept	158003		Xanthoma disseminatum
Concept	158008		Papular xanthoma
Concept	158011		Necrobiotic xanthogranuloma
Concept	158014		Rosaï-Dorfman disease
Concept	158019		Indeterminate cell histiocytosis
Concept	158022		Progressive nodular histiocytosis
Concept	158025		Hereditary progressive mucinous histiocytosis
Concept	158029		Sea-blue histiocytosis
Concept	158048		Hemophagocytic syndrome associated with an infection
Concept	158057		Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
Concept	158061		Macrophage activation syndrome
Concept	1581		Non-distal deletion 10q
Concept	158668		Ectodermal dysplasia-skin fragility syndrome
Concept	158673		Localized dystrophic epidermolysis bullosa, acral form
Concept	158676		Localized dystrophic epidermolysis bullosa, nails only
Concept	158681		Epidermolysis bullosa simplex with circinate migratory erythema
Concept	158684		Epidermolysis bullosa simplex with pyloric atresia
Concept	158687		Lethal acantholytic erosive disorder
Concept	1587		Monosomy 13q14
Concept	158766		Typical urticaria pigmentosa
Concept	158769		Plaque-form urticaria pigmentosa
Concept	158772		Nodular urticaria pigmentosa
Concept	158775		Smoldering systemic mastocytosis
Concept	158778		Isolated bone marrow mastocytosis
Concept	159		Carnitine-acylcarnitine translocase deficiency
Concept	1590		Distal deletion 13q
Concept	1596		Distal deletion 15q
Concept	1597		Distal deletion 17q
Concept	1598		Monosomy 18p
Concept	16		Blue cone monochromatism
Concept	160		Castleman disease
Concept	1600		Monosomy 18q
Concept	160148		Cap polyposis
Concept	1606		1p36 deletion syndrome
Concept	1617		2q24 microdeletion syndrome	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Concept	162		Cataract-glaucoma syndrome	Congenital cataract-anterior segment dysgenesis syndrome
Concept	1620		Distal deletion 3p
Concept	1621		3q13 microdeletion syndrome
Concept	162516		Isolated congenital nasal pyriform aperture stenosis
Concept	162526		Isolated congenital auditory ossicle malformation
Concept	1627		Deletion 5q35
Concept	163		Hereditary hyperferritinemia-cataract syndrome
Concept	163525		Subacute cutaneous lupus erythematosus
Concept	163596		Hb Bart's hydrops fetalis
Concept	1636		Distal monosomy 7q36
Concept	163634		Maffucci syndrome
Concept	163649		Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Concept	163654		Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Concept	163662		Spondyloepiphyseal dysplasia, Reardon type
Concept	163665		Spondyloepiphyseal dysplasia tarda, Kohn type
Concept	163668		Spondyloepiphyseal dysplasia, MacDermot type
Concept	163681		CNTNAP2-related developmental and epileptic encephalopathy
Concept	163684		Leukoencephalopathy-dystonia-motor neuropathy syndrome
Concept	163690		Hypotonia-cystinuria syndrome
Concept	163693		2p21 microdeletion syndrome
Concept	163696		Action myoclonus-renal failure syndrome
Concept	163699		Alveolar soft tissue sarcoma
Concept	163703		Febrile infection-related epilepsy syndrome
Concept	163708		Cryptogenic late-onset epileptic spasms
Concept	163717		Benign familial mesial temporal lobe epilepsy
Concept	163721		Rolandic epilepsy-speech dyspraxia syndrome
Concept	163727		Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Concept	163746		Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Concept	163921		Posttransplant acute limbic encephalitis
Concept	163927		Pustulosis palmaris et plantaris
Concept	163931		Acrodermatitis continua of Hallopeau
Concept	163934		Atopic keratoconjunctivitis
Concept	163937		X-linked intellectual disability, Najm type
Concept	163956		X-linked intellectual disability, Nascimento type
Concept	163961		X-linked cerebral-cerebellar-coloboma syndrome
Concept	163966		X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Concept	163971		X-linked intellectual disability, Cilliers type
Concept	163976		X-linked intellectual disability, Van Esch type
Concept	163979		X-linked intellectual disability-craniofacioskeletal syndrome
Concept	163985		Hyperekplexia-epilepsy syndrome
Concept	1642		Distal deletion 9p
Concept	1643		Xp22.3 microdeletion syndrome
Concept	1646		Partial chromosome Y deletion	Chromosome Y microdeletion
Concept	1647		Oculocerebrocutaneous syndrome
Concept	164726		Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Concept	164736		Familial advanced sleep-phase syndrome
Concept	1652		Dent disease
Concept	1653		Dentin dysplasia
Concept	1655		Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Concept	1656		Dermatitis herpetiformis
Concept	1657		Dermatoosteolysis, Kirghizian type
Concept	1658		Absence of fingerprints-congenital milia syndrome
Concept	165805		Familial mesial temporal lobe epilepsy with febrile seizures
Concept	1659		Dermatoleukodystrophy
Concept	165955		Wound myiasis
Concept	165958		Cavitary myiasis
Concept	165991		Exercise-induced hyperinsulinism
Concept	1660		Dermoodontodysplasia
Concept	166002		Multiple epiphyseal dysplasia due to collagen 9 anomaly
Concept	166011		Version: Multiple epiphyseal dysplasia, Beighton type		Removed this Concept
Concept	166016		Multiple epiphyseal dysplasia, Lowry type
Concept	166024		Multiple epiphyseal dysplasia, Al-Gazali type	Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Concept	166029		Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
Concept	166032		Multiple epiphyseal dysplasia, with miniepiphyses	Multiple epiphyseal dysplasia-miniepiphyses syndrome
Concept	166035		Brachydactyly-short stature-retinitis pigmentosa syndrome
Concept	166038		Metaphyseal chondrodysplasia, Kaitila type
Concept	166063		Pontocerebellar hypoplasia type 4
Concept	166073		Pontocerebellar hypoplasia type 6
Concept	166078		Von Willebrand disease type 1
Concept	166081		Von Willebrand disease type 2
Concept	166084		Von Willebrand disease type 2A
Concept	166087		Von Willebrand disease type 2B
Concept	166090		Von Willebrand disease type 2M
Concept	166093		Von Willebrand disease type 2N
Concept	166096		Von Willebrand disease type 3
Concept	1661		X-linked corneal dermoid
Concept	166100		Autosomal dominant otospondylomegaepiphyseal dysplasia
Concept	166105		FASTKD2-related infantile mitochondrial encephalomyopathy
Concept	166108		Intellectual disability, Birk-Barel type
Concept	166113		Bazex syndrome
Concept	166119		Isolated osteopoikilosis
Concept	1662		Restrictive dermopathy
Concept	166260		Dentinogenesis imperfecta type 2
Concept	166265		Dentinogenesis imperfecta type 3
Concept	166272		Odontochondrodysplasia
Concept	166277		Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Concept	166282		Familial sick sinus syndrome
Concept	166286		Porokeratotic eccrine ostial and dermal duct nevus
Concept	166291		Dirofilariasis
Concept	166299		Benign partial epilepsy of infancy with complex partial seizures
Concept	166302		Benign partial epilepsy with secondarily generalized seizures in infancy
Concept	166305		Benign infantile seizures associated with mild gastroenteritis
Concept	166308		Benign infantile focal epilepsy with midline spikes and waves during sleep
Concept	166409		Photosensitive epilepsy
Concept	166412		Hot water reflex epilepsy
Concept	166415		Audiogenic seizures
Concept	166418		Eating reflex epilepsy
Concept	166421		Orgasm-induced seizures
Concept	166424		Thinking seizures
Concept	166427		Startle epilepsy
Concept	166430		Micturation-induced seizures
Concept	166433		Reading seizures
Concept	1665		Sporadic fetal brain disruption sequence
Concept	1666		Dextrocardia
Concept	1667		Wolcott-Rallison syndrome
Concept	167		Chédiak-Higashi syndrome
Concept	1670		Chronic diarrhea with villous atrophy
Concept	1671		Split cord malformation type I
Concept	1672		Diencephalic syndrome
Concept	1675		Dihydropyrimidine dehydrogenase deficiency
Concept	1676		Idiopathic pulmonary artery dilatation
Concept	167635		Scleromyxedema
Concept	1677		Familial idiopathic dilatation of the right atrium
Concept	1679		Diphtheria
Concept	168		Loose anagen syndrome
Concept	1681		Diprosopus
Concept	1682		Arterial dissection-lentiginosis syndrome
Concept	168443		Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Concept	168451		Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Concept	168454		Spondyloepimetaphyseal dysplasia, Geneviève type
Concept	168486		Version: Congenital neuronal ceroid lipofuscinosis		Removed this Concept
Concept	168491		Version: Late infantile neuronal ceroid lipofuscinosis		Removed this Concept
Concept	1685		Version: Distomatosis		Removed this Concept
Concept	168544		Spondylometaphyseal dysplasia, Golden type
Concept	168549		Axial spondylometaphyseal dysplasia
Concept	168552		Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Concept	168555		Spondylometaphyseal dysplasia, A4 type
Concept	168558		46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Concept	168563		46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Concept	168566		Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Concept	168569		H syndrome
Concept	168572		Native American myopathy
Concept	168577		Hereditary cryohydrocytosis with reduced stomatin
Concept	168583		Hereditary North American Indian childhood cirrhosis
Concept	168588		Hyperandrogenism due to cortisone reductase deficiency
Concept	168593		Sudden infant death-dysgenesis of the testes syndrome
Concept	168598		Methionine adenosyltransferase I/III deficiency
Concept	1686		Cardiac diverticulum
Concept	168601		Congenital enteropathy due to enteropeptidase deficiency
Concept	168606		Seborrhea-like dermatitis with psoriasiform elements
Concept	168612		Congenital deficiency in alpha-fetoprotein
Concept	168615		Hereditary persistence of alpha-fetoprotein
Concept	168621		Dysplasia of head of femur, Meyer type
Concept	168624		Familial scaphocephaly syndrome, McGillivray type
Concept	168629		Autosomal thrombocytopenia with normal platelets
Concept	168632		Generalized basaloid follicular hamartoma syndrome
Concept	168782		Childhood disintegrative disorder
Concept	168796		Heart-hand syndrome, Slovenian type
Concept	168811		Malignant peritoneal mesothelioma
Concept	168816		Peritoneal cystic mesothelioma	Peritoneal inclusion cyst
Concept	168829		Primary peritoneal carcinoma
Concept	168940		Chronic eosinophilic leukemia
Concept	168947		Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Concept	168950		Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Concept	168953		Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Concept	168960		Refractory anemia with excess blasts in transformation
Concept	168966		Composite lymphoma
Concept	168984		CLAPO syndrome
Concept	168999		Malignant melanoma of the mucosa
Concept	169		Ringed hair disease
Concept	169079		Cernunnos-XLF deficiency
Concept	169082		Combined immunodeficiency due to CD3gamma deficiency
Concept	169085		Susceptibility to respiratory infections associated with CD8alpha chain mutation
Concept	169090		Combined immunodeficiency due to CRAC channel dysfunction
Concept	169095		Severe combined immunodeficiency due to FOXN1 deficiency
Concept	169100		Immunodeficiency due to CD25 deficiency
Concept	169105		Good syndrome
Concept	169110		Immunoglobulin heavy chain deficiency
Concept	169139		Transient hypogammaglobulinemia of infancy
Concept	169142		Recurrent infection due to specific granule deficiency	Recurrent infections due to specific granule deficiency
Concept	169147		Immunodeficiency due to a classical component pathway complement deficiency
Concept	169150		Immunodeficiency due to a late component of complement deficiency
Concept	169154		T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Concept	169157		T-B+ severe combined immunodeficiency due to CD45 deficiency
Concept	169160		T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Concept	169186		Autosomal recessive centronuclear myopathy
Concept	169189		Autosomal dominant centronuclear myopathy
Concept	1692		Mosaic trisomy 1
Concept	169464		Primary CD59 deficiency
Concept	169467		Recurrent Neisseria infections due to factor D deficiency
Concept	1695		Non-distal duplication 10q
Concept	169793		Severe hemophilia B
Concept	169796		Moderate hemophilia B
Concept	169799		Mild hemophilia B
Concept	1698		Mosaic trisomy 12
Concept	169802		Severe hemophilia A
Concept	169805		Moderate hemophilia A
Concept	169808		Mild hemophilia A
Concept	1699		Trisomy 12p
Concept	17		Fatal infantile lactic acidosis with methylmalonic aciduria
Concept	170		Woolly hair
Concept	1702		Non-distal duplication 13q
Concept	1703		Mosaic trisomy 14
Concept	1705		Distal duplication 14q
Concept	1706		Mosaic trisomy 15
Concept	1707		Distal duplication 15q
Concept	1708		Mosaic trisomy 16
Concept	171		Primary sclerosing cholangitis
Concept	1711		Mosaic trisomy 17
Concept	171220		Rectal duplication
Concept	1713		17p11.2 microduplication syndrome
Concept	171430		Severe congenital nemaline myopathy
Concept	171433		Intermediate nemaline myopathy
Concept	171436		Typical nemaline myopathy
Concept	171439		Childhood-onset nemaline myopathy
Concept	171442		Adult-onset nemaline myopathy
Concept	171445		Muscle filaminopathy
Concept	1715		Trisomy 18p
Concept	1716		Distal duplication 18q
Concept	171607		X-linked spastic paraplegia type 34
Concept	171612		Autosomal dominant spastic paraplegia type 37
Concept	171617		Autosomal dominant spastic paraplegia type 38
Concept	171622		Autosomal recessive spastic paraplegia type 32
Concept	171629		Autosomal recessive spastic paraplegia type 35
Concept	171673		Limbal stem cell deficiency
Concept	171680		Lissencephaly due to TUBA1A mutation
Concept	171684		Idiopathic bilateral vestibulopathy
Concept	171690		Metabolic myopathy due to lactate transporter defect
Concept	171695		Parkinsonian-pyramidal syndrome
Concept	1717		Distal duplication 19q
Concept	171700		Diffuse panbronchiolitis
Concept	171703		Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Concept	171706		Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Concept	171709		Male infertility due to globozoospermia
Concept	171719		Cutis laxa-Marfanoid syndrome
Concept	171723		White sponge nevus
Concept	171829		6q16 microdeletion syndrome
Concept	171839		Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Concept	171844		Blindness-scoliosis-arachnodactyly syndrome
Concept	171848		Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Concept	171851		MEDNIK syndrome
Concept	171863		Autosomal dominant spastic paraplegia type 42
Concept	171866		Spondyloepimetaphyseal dysplasia, aggrecan type
Concept	171871		Renal pseudohypoaldosteronism type 1
Concept	171876		Generalized pseudohypoaldosteronism type 1
Concept	171881		Cap myopathy
Concept	171886		Cylindrical spirals myopathy
Concept	171889		Myopathy with hexagonally cross-linked tubular arrays
Concept	171929		Trisomy 10p
Concept	172		Progressive familial intrahepatic cholestasis
Concept	1723		Mosaic trisomy 2
Concept	1724		Mosaic trisomy 20
Concept	1727		22q11.2 duplication syndrome
Concept	173		Cholera
Concept	1738		Trisomy 4p
Concept	174		Metaphyseal chondrodysplasia, Schmid type
Concept	1742		Trisomy 5p
Concept	1745		Distal duplication 6p
Concept	1747		Mosaic trisomy 7
Concept	175		Cartilage-hair hypoplasia
Concept	1752		Trisomy 8q
Concept	1756		Caudal duplication
Concept	1757		Fibular dimelia-diplopodia syndrome
Concept	1759		Thoraco-abdominal enteric duplication
Concept	1762		Proximal Xq28 duplication syndrome
Concept	1764		Familial dysautonomia
Concept	1765		Version: Dyschondrosteosis-nephritis syndrome		Removed this Concept
Concept	1766		Dysequilibrium syndrome
Concept	1768		Familial caudal dysgenesis
Concept	177		Rhizomelic chondrodysplasia punctata
Concept	1770		XY type gonadal dysgenesis-associated anomalies syndrome
Concept	1772		45,X/46,XY mixed gonadal dysgenesis
Concept	1775		Dyskeratosis congenita
Concept	1777		Temtamy syndrome
Concept	1778		Facial dysmorphism-shawl scrotum-joint laxity syndrome
Concept	1779		Dysmorphism-cleft palate-loose skin syndrome
Concept	177901		Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Concept	177904		Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Concept	177907		Prader-Willi syndrome due to translocation
Concept	177910		Prader-Willi syndrome due to imprinting mutation
Concept	177926		Bleeding disorder in hemophilia A carriers
Concept	177929		Bleeding disorder in hemophilia B carriers
Concept	178		Chordoma
Concept	1780		Thakker-Donnai syndrome
Concept	178029		Central diabetes insipidus	Arginine vasopressin deficiency
Concept	178145		Moderate multiminicore disease with hand involvement
Concept	178148		Antenatal multiminicore disease with arthrogryposis multiplex congenita
Concept	1782		Dysosteosclerosis
Concept	178303		8q22.1 microdeletion syndrome
Concept	178307		Reticulate acropigmentation of Kitamura
Concept	178311		Isolated sternocostoclavicular hyperostosis
Concept	178315		Undifferentiated embryonal sarcoma of the liver
Concept	178320		Acute lung injury
Concept	178333		Åland Islands eye disease
Concept	178338		UV-sensitive syndrome
Concept	178342		Inflammatory myofibroblastic tumor
Concept	178345		Aromatase excess syndrome
Concept	178355		Smith-McCort dysplasia
Concept	178364		Syndromic microphthalmia type 5
Concept	178377		Osteosclerosis-developmental delay-craniosynostosis syndrome
Concept	178382		Congenital vertical talus
Concept	178389		Osteopetrosis-hypogammaglobulinemia syndrome
Concept	178396		Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Concept	1784		Acrofrontofacionasal dysostosis
Concept	178400		Distal myopathy with anterior tibial onset
Concept	178461		X-linked myopathy with postural muscle atrophy
Concept	178464		Hereditary myopathy with early respiratory failure
Concept	178469		Autosomal dominant non-syndromic intellectual disability
Concept	178475		Wound botulism
Concept	178478		Infant botulism
Concept	178481		Intestinal botulism
Concept	178487		Adult intestinal botulism
Concept	178493		Version: Myopic macular degeneration		Removed this Concept
Concept	178506		Brain calcification, Rajab type
Concept	178509		Perry syndrome
Concept	178512		Folliculotropic mycosis fungoides
Concept	178517		Localized pagetoid reticulosis
Concept	178522		Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Concept	178528		Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Concept	178533		Primary cutaneous gamma/delta-positive T-cell lymphoma
Concept	178536		Primary cutaneous marginal zone B-cell lymphoma
Concept	178540		Primary cutaneous follicle center lymphoma
Concept	178544		Primary cutaneous diffuse large B-cell lymphoma, leg type
Concept	1786		Acrofacial dysostosis, Catania type
Concept	1787		Acrofacial dysostosis, Palagonia type
Concept	1788		Acrofacial dysostosis, Rodríguez type
Concept	179		Birdshot chorioretinopathy
Concept	1790		Hypomandibular faciocranial dysostosis
Concept	1791		Frontofacionasal dysplasia
Concept	1794		Oculomaxillofacial dysostosis
Concept	179490		Obesity due to congenital leptin resistance
Concept	179494		Obesity due to leptin receptor gene deficiency
Concept	1795		Version: Peripheral dysostosis		Removed this Concept
Concept	1797		Autosomal dominant spondylocostal dysostosis
Concept	1798		Dysostosis, Stanescu type	Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Concept	1799		Familial developmental dysphasia
Concept	18		Distal renal tubular acidosis
Concept	180		Choroideremia
Concept	180074		True unicornuate uterus
Concept	180079		Pseudounicornuate uterus
Concept	180086		Didelphys uterus
Concept	1801		Kyphomelic dysplasia
Concept	180106		Bicervical bicornuate uterus and blind hemivagina
Concept	180111		Bicervical bicornuate uterus with patent cervix and vagina
Concept	180114		Unicervical bicornuate uterus
Concept	180126		Complete septate uterus
Concept	180129		Partial septate uterus
Concept	180139		Uterine hypoplasia
Concept	180142		Absence of uterine body
Concept	180145		Uterine cervical aplasia and agenesis
Concept	180154		Septate vagina
Concept	180157		Longitudinal vaginal septum
Concept	180160		Transverse vaginal septum
Concept	180176		Familial juvenile hypertrophy of the breast
Concept	180182		Supernumerary breasts
Concept	180188		Isolated congenital breast hypoplasia/aplasia
Concept	1802		Ghosal hematodiaphyseal dysplasia
Concept	180226		Embryonal carcinoma
Concept	180229		Polyembryoma
Concept	180234		Mixed germ cell tumor
Concept	180237		Benign tumor of fallopian tubes
Concept	180242		Malignant tumor of fallopian tubes
Concept	180247		Vaginal carcinoma
Concept	180261		Phyllodes tumor of the breast
Concept	180267		Giant adenofibroma of the breast
Concept	180275		Paget disease of the nipple
Concept	1803		Thoracomelic dysplasia
Concept	1806		Ectodermal dysplasia-blindness syndrome
Concept	1807		Focal facial dermal dysplasia type III
Concept	1808		Hidrotic ectodermal dysplasia, Christianson-Fourie type
Concept	1809		Hidrotic ectodermal dysplasia, Halal type
Concept	181		X-linked hypohidrotic ectodermal dysplasia
Concept	1810		Autosomal dominant hypohidrotic ectodermal dysplasia
Concept	1811		Odontomicronychial dysplasia
Concept	1812		Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Concept	1816		Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Concept	1818		Ectodermal dysplasia, trichoodontoonychial type
Concept	182		Chromomycosis
Concept	182050		MYH9-related disease
Concept	182127		Extragonadal germinoma
Concept	1822		Dysplasia epiphysealis hemimelica
Concept	1824		Lowry-Wood syndrome
Concept	1825		Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Concept	1826		Frontometaphyseal dysplasia
Concept	1827		Acromelic frontonasal dysplasia
Concept	183		Eosinophilic granulomatosis with polyangiitis
Concept	1830		Schimke immuno-osseous dysplasia
Concept	1832		Lethal osteosclerotic bone dysplasia	Osteosclerotic bone dysplasia
Concept	1834		Axial mesodermal dysplasia spectrum
Concept	1836		Mesomelic dysplasia, Kantaputra type
Concept	183663		Hyper-IgM syndrome with susceptibility to opportunistic infections
Concept	183666		Hyper-IgM syndrome without susceptibility to opportunistic infections
Concept	183675		Recurrent infections associated with rare immunoglobulin isotypes deficiency
Concept	183678		Hermansky-Pudlak syndrome due to AP-3 deficiency
Concept	1837		Ulna metaphyseal dysplasia syndrome	Metaphyseal chondrodysplasia, Rosenberg type
Concept	183707		Neutrophil immunodeficiency syndrome	Infantile LAD-like disease due to RAC2 deficiency
Concept	183713		Bacterial susceptibility due to TLR signaling pathway deficiency
Concept	1839		Hereditary mucoepithelial dysplasia
Concept	184		Cherubism
Concept	1842		Bone dysplasia, lethal Holmgren type
Concept	1848		Renal agenesis, bilateral
Concept	185		Scimitar syndrome
Concept	1851		Multicystic dysplastic kidney
Concept	1852		X-linked retinal dysplasia
Concept	1855		Spondyloenchondrodysplasia
Concept	1856		Spondyloperipheral dysplasia-short ulna syndrome
Concept	1858		Skeletal dysplasia-epilepsy-short stature syndrome
Concept	186		Primary biliary cholangitis
Concept	1860		Thanatophoric dysplasia type 1
Concept	1861		Thoracic dysplasia-hydrocephalus syndrome
Concept	1865		Dyssegmental dysplasia, Silverman-Handmaker type
Concept	1867		Hereditary bullous dystrophy, macular type
Concept	1871		Progressive cone dystrophy
Concept	1872		Cone rod dystrophy
Concept	1873		Jalili syndrome
Concept	1875		Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Concept	1876		Oculogastrointestinal muscular dystrophy
Concept	1878		TRIM32-related limb-girdle muscular dystrophy R8
Concept	1879		Melorheostosis with osteopoikilosis
Concept	188		Systemic capillary leak syndrome
Concept	1880		Ebstein malformation of the tricuspid valve
Concept	1882		Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Concept	1883		Ectodermal dysplasia-sensorineural deafness syndrome
Concept	1884		Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Concept	1885		Isolated ectopia lentis
Concept	189		Hidrotic ectodermal dysplasia
Concept	1891		Intellectual disability-spasticity-ectrodactyly syndrome
Concept	1892		Ectrodactyly-polydactyly syndrome
Concept	189427		Cushing syndrome due to bilateral macronodular adrenocortical disease
Concept	189466		Familial isolated hypoparathyroidism due to impaired PTH secretion
Concept	1895		Edinburgh malformation syndrome
Concept	1896		EEC syndrome
Concept	1897		EEM syndrome
Concept	1899		Arthrochalasia Ehlers-Danlos syndrome
Concept	190		Coats disease
Concept	1900		Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Concept	1901		Dermatosparaxis Ehlers-Danlos syndrome
Concept	1902		Ehrlichiosis
Concept	1906		Fetal valproate spectrum disorder
Concept	1908		Aminopterin/methotrexate embryofetopathy
Concept	1909		Indomethacin embryofetopathy
Concept	191		Cockayne syndrome
Concept	1910		Fetal iodine syndrome
Concept	1911		Cocaine embryofetopathy
Concept	1912		Fetal hydantoin syndrome
Concept	1913		Fetal trimethadione syndrome
Concept	1914		Vitamin K antagonist embryofetopathy
Concept	1915		Fetal alcohol syndrome
Concept	1916		Diethylstilbestrol syndrome
Concept	1917		Fetal methylmercury syndrome
Concept	1918		Fetal minoxidil syndrome
Concept	1919		Phenobarbital embryopathy
Concept	192		Coffin-Lowry syndrome
Concept	1920		Toluene embryopathy
Concept	1923		Methimazole embryofetopathy
Concept	1926		Diabetic embryopathy
Concept	1927		Emery-Nelson syndrome
Concept	1928		Congenital lobar emphysema
Concept	1929		Rasmussen subacute encephalitis
Concept	193		Cohen syndrome
Concept	1930		Herpes simplex virus encephalitis
Concept	1931		Frontal encephalocele
Concept	1933		Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Concept	1934		Early infantile epileptic encephalopathy
Concept	1935		Early myoclonic encephalopathy
Concept	1937		Eng-Strom syndrome
Concept	1941		Juvenile absence epilepsy
Concept	1942		Myoclonic-astatic epilepsy
Concept	1943		Early-onset progressive encephalopathy with migrant continuous myoclonus
Concept	1945		Rolandic epilepsy
Concept	1946		Amelocerebrohypohidrotic syndrome
Concept	1947		Progressive epilepsy-intellectual disability syndrome, Finnish type
Concept	1948		Epilepsy-microcephaly-skeletal dysplasia syndrome
Concept	1949		Benign familial neonatal epilepsy
Concept	195		Cat-eye syndrome
Concept	1951		Epilepsy-telangiectasia syndrome
Concept	1952		Epiphyseal stippling-osteoclastic hyperplasia syndrome
Concept	1954		Congenital lethal erythroderma
Concept	1955		Spinocerebellar ataxia type 34
Concept	1957		Esthesioneuroblastoma
Concept	1959		Evans syndrome
Concept	1962		Exostoses-anetodermia-brachydactyly type E syndrome
Concept	1964		Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Concept	1968		Flat face-microstomia-ear anomaly syndrome
Concept	1969		Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Concept	1970		Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Concept	1972		Lethal faciocardiomelic dysplasia
Concept	1973		Faciocardiorenal syndrome
Concept	1974		Autosomal recessive faciodigitogenital syndrome
Concept	1979		Lipodystrophy due to peptidic growth factors deficiency
Concept	198		Occipital horn syndrome
Concept	1980		Bilateral striopallidodentate calcinosis
Concept	1986		Gollop-Wolfgang complex
Concept	1987		Femoral agenesis/hypoplasia	Isolated femoral agenesis/hypoplasia
Concept	1988		Femoral-facial syndrome
Concept	199		Cornelia de Lange syndrome
Concept	199241		Pulmonary capillary hemangiomatosis
Concept	199244		Nelson syndrome
Concept	199247		Corticosteroid-binding globulin deficiency
Concept	199251		Ledderhose disease
Concept	199260		Calcifying aponeurotic fibroma
Concept	199267		Infantile digital fibromatosis
Concept	199276		Familial multiple lipomatosis
Concept	199279		Familial angiolipomatosis
Concept	199282		Harlequin syndrome
Concept	199285		Hereditary hypercarotenemia and vitamin A deficiency
Concept	199293		Congenital microgastria
Concept	199296		Congenital isolated ACTH deficiency
Concept	199299		Late-onset isolated ACTH deficiency
Concept	1993		Pai syndrome
Concept	199302		Isolated cleft lip
Concept	199306		Cleft lip/palate
Concept	199310		Tetragametic chimerism
Concept	199315		Familial clubfoot with or without associated lower limb anomalies
Concept	199318		15q13.3 microdeletion syndrome
Concept	199323		Endophthalmitis
Concept	199326		Isolated autosomal dominant hypomagnesemia, Glaudemans type
Concept	199329		Congenital myopathy, Paradas type
Concept	199332		Endocrine-cerebro-osteodysplasia syndrome
Concept	199337		Pancreatic insufficiency-anemia-hyperostosis syndrome
Concept	199340		Muscular dystrophy, Selcen type
Concept	199343		EAST syndrome
Concept	199348		Thiamine-responsive encephalopathy
Concept	199351		Adult-onset dystonia-parkinsonism
Concept	199354		Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Concept	1995		Cleft lip-retinopathy syndrome
Concept	199627		Atypical autism
Concept	199630		Isolated cerebellar vermis hypoplasia
Concept	199642		Isolated congenital microcephaly
Concept	199647		Isolated encephalocele
Concept	1997		Blepharo-cheilo-odontic syndrome
Concept	20		3-hydroxy-3-methylglutaric aciduria
Concept	200		Isolated corpus callosum agenesis
Concept	2001		Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Concept	2003		Cleft lip/palate-deafness-sacral lipoma syndrome
Concept	2004		Laryngotracheoesophageal cleft
Concept	200418		Immunodeficiency with factor I anomaly
Concept	200421		Immunodeficiency with factor H anomaly
Concept	2006		Median cleft lip/mandible
Concept	2007		Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Concept	2008		Acrocardiofacial syndrome
Concept	201		Cowden syndrome
Concept	2010		Cleft palate-stapes fixation-oligodontia syndrome
Concept	2013		Cleft palate-large ears-small head syndrome
Concept	2015		Cleft palate-short stature-vertebral anomalies syndrome
Concept	2016		Cleft palate-lateral synechia syndrome
Concept	2017		Sternal cleft
Concept	2019		Femur-fibula-ulna complex
Concept	202		Crandall syndrome
Concept	2020		Congenital fiber-type disproportion myopathy
Concept	2021		Fibrochondrogenesis
Concept	2022		Endocardial fibroelastosis
Concept	2023		Undifferentiated pleomorphic sarcoma
Concept	2024		Hereditary gingival fibromatosis
Concept	2025		Gingival fibromatosis-facial dysmorphism syndrome
Concept	2026		Gingival fibromatosis-hypertrichosis syndrome
Concept	2027		Gingival fibromatosis-progressive deafness syndrome
Concept	2028		Juvenile hyaline fibromatosis
Concept	2030		Fibrosarcoma
Concept	2031		Hepatic fibrosis-renal cysts-intellectual disability syndrome
Concept	2032		Idiopathic pulmonary fibrosis
Concept	2035		Lymphatic filariasis
Concept	2036		Scalp-ear-nipple syndrome
Concept	2037		Congenital aortopulmonary window
Concept	2038		Pulmonary arteriovenous malformation
Concept	2039		Congenital systemic arteriovenous fistula
Concept	204		Sporadic Creutzfeldt-Jakob disease
Concept	2040		Congenital respiratory-biliary fistula
Concept	2041		Coronary arterial fistula
Concept	2044		Floating-Harbor syndrome
Concept	2045		FLOTCH syndrome
Concept	2047		Flynn-Aird syndrome
Concept	2048		Foix-Chavany-Marie syndrome
Concept	205		Crigler-Najjar syndrome
Concept	2050		Cole-Carpenter syndrome
Concept	2052		Fraser syndrome
Concept	2053		Freeman-Sheldon syndrome
Concept	2056		Essential fructosuria
Concept	2057		Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Concept	2058		Fryns-Smeets-Thiry syndrome
Concept	2059		Fryns syndrome
Concept	2062		Progressive non-infectious anterior vertebral fusion
Concept	2063		Splenogonadal fusion-limb defects-micrognathia syndrome
Concept	2064		Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Concept	206436		Infantile Krabbe disease
Concept	206443		Late-infantile/juvenile Krabbe disease
Concept	206448		Adult Krabbe disease
Concept	206470		Cystadenoma of childhood
Concept	206484		Gonadoblastoma
Concept	206489		Malignant germ cell tumor of the vagina
Concept	206492		Vulvovaginal rhabdomyosarcoma
Concept	2065		Galloway-Mowat syndrome
Concept	206538		Malignant non-dysgerminomatous germ cell tumor of ovary
Concept	206546		Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Concept	206549		Anoctamin-5-related limb-girdle muscular dystrophy R12
Concept	206554		Fukutin-related limb-girdle muscular dystrophy R13
Concept	206559		POMT2-related limb-girdle muscular dystrophy R14
Concept	206564		POMGNT1-related limb-girdle muscular dystrophy R15
Concept	206569		Immune-mediated necrotizing myopathy
Concept	206572		Overlap myositis
Concept	206575		Rippling muscle disease with myasthenia gravis
Concept	206580		Autosomal recessive lower motor neuron disease with childhood onset
Concept	206583		Adult polyglucosan body disease
Concept	206586		Neurolymphomatosis
Concept	206594		Subacute inflammatory demyelinating polyneuropathy
Concept	206599		Isolated asymptomatic elevation of creatine phosphokinase
Concept	2066		Gamma-aminobutyric acid transaminase deficiency
Concept	2067		GAPO syndrome
Concept	2069		Gastrocutaneous syndrome
Concept	206991		Viral myositis
Concept	206994		Bacterial myositis
Concept	207		Crouzon syndrome
Concept	2070		Eosinophilic gastroenteritis
Concept	207000		Fungal myositis
Concept	2072		Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Concept	2073		Narcolepsy type 1
Concept	2074		Gemignani syndrome
Concept	2075		Genitopalatocardiac syndrome
Concept	2077		German syndrome
Concept	2078		Geroderma osteodysplastica
Concept	2083		Prominent glabella-microcephaly-hypogenitalism syndrome
Concept	2084		Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Concept	208441		Bilateral parasagittal parieto-occipital polymicrogyria
Concept	208444		Bilateral frontal polymicrogyria
Concept	208447		Bilateral generalized polymicrogyria
Concept	2085		Glaucoma-sleep apnea syndrome
Concept	208513		Spinocerebellar ataxia type 29
Concept	208524		Herpetiform pemphigus
Concept	2086		Optic pathway glioma
Concept	2088		Fanconi-Bickel syndrome
Concept	2089		Glycogen storage disease due to hepatic glycogen synthase deficiency
Concept	208989		Non-paraneoplastic sensory ganglionopathy
Concept	208999		Paraneoplastic sensory ganglionopathy
Concept	2090		GMS syndrome
Concept	209004		Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Concept	2091		Multinodular goiter-cystic kidney-polydactyly syndrome
Concept	2092		Focal dermal hypoplasia
Concept	209335		Autosomal dominant adult-onset proximal spinal muscular atrophy
Concept	209341		DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Concept	209370		Severe neonatal-onset encephalopathy with microcephaly
Concept	2095		Gorlin-Chaudhry-Moss syndrome
Concept	2097		Grant syndrome
Concept	2098		Acromesomelic dysplasia, Grebe type
Concept	209867		Autosomal dominant rhegmatogenous retinal detachment
Concept	209902		Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Concept	209905		Brain-lung-thyroid syndrome
Concept	209908		Isolated childhood apraxia of speech
Concept	209916		Extraskeletal myxoid chondrosarcoma
Concept	209919		Idiopathic copper-associated cirrhosis
Concept	209932		Cone dystrophy with supernormal rod response
Concept	209943		IRVAN syndrome
Concept	209951		Autosomal spastic paraplegia type 18
Concept	209956		Idiopathic uveal effusion syndrome
Concept	209959		Phacoanaphylactic uveitis
Concept	209964		Solitary rectal ulcer syndrome
Concept	209967		Episodic ataxia type 6
Concept	209970		Episodic ataxia type 7
Concept	209973		Benign nocturnal alternating hemiplegia of childhood
Concept	209981		IRIDA syndrome
Concept	209989		Non-papillary transitional cell carcinoma of the bladder
Concept	210		Cyclosporiasis
Concept	2101		Grubben-de Cock-Borghgraef syndrome
Concept	210110		Intermediate osteopetrosis
Concept	210115		Sterile multifocal osteomyelitis with periostitis and pustulosis
Concept	210122		Congenital alveolar capillary dysplasia
Concept	210128		Urocanic aciduria
Concept	210133		Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Concept	210136		Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Concept	210141		Inherited congenital spastic tetraplegia
Concept	210144		Lethal polymalformative syndrome, Boissel type
Concept	210159		Adult hepatocellular carcinoma
Concept	210163		Congenital lethal myopathy, Compton-North type
Concept	2102		GTP cyclohydrolase I deficiency
Concept	210272		Mal de débarquement
Concept	2104		Dysmorphism-pectus carinatum-joint laxity syndrome
Concept	210548		Macrocephaly-intellectual disability-autism syndrome
Concept	210571		Dystonia 16
Concept	210576		Congenital temporomandibular joint ankylosis
Concept	210584		Spindle cell hemangioma
Concept	2107		Hall-Riggs syndrome
Concept	2108		Hallermann-Streiff syndrome
Concept	2109		Hallermann-Streiff-like syndrome
Concept	211		Familial cylindromatosis
Concept	2110		Hallux varus-preaxial polysyndactyly syndrome
Concept	211017		Spinocerebellar ataxia type 30
Concept	211067		Episodic ataxia type 5
Concept	2111		Cystic hamartoma of lung and kidney
Concept	2114		Hip dysplasia, Beukes type
Concept	2115		Harrod syndrome
Concept	2116		Hartnup disease
Concept	2117		Hartsfield syndrome
Concept	2118		Hawkinsinuria
Concept	2119		HEC syndrome
Concept	212		Cystathioninuria
Concept	2122		Kaposiform hemangioendothelioma
Concept	2123		Diffuse neonatal hemangiomatosis	Multifocal infantile hemangioma with extracutenous involvement
Concept	2126		Solitary fibrous tumor
Concept	2128		Isolated hemihyperplasia
Concept	213		Cystinosis
Concept	2131		Alternating hemiplegia of childhood
Concept	2132		Hemoglobin C disease
Concept	2133		Hemoglobin E disease
Concept	2134		Atypical hemolytic uremic syndrome
Concept	2135		Hennekam-Beemer syndrome
Concept	213504		Adenocarcinoma of ovary
Concept	213512		Malignant mixed Müllerian tumor of the ovary
Concept	213528		Rare adenocarcinoma of the breast
Concept	213531		Metaplastic carcinoma of the breast
Concept	213557		Salivary gland type cancer of the breast
Concept	2136		Hennekam syndrome
Concept	213600		Adenosarcoma of the corpus uteri
Concept	213605		Carcinofibroma of the corpus uteri
Concept	213610		Carcinosarcoma of the corpus uteri
Concept	213615		Rhabdomyosarcoma of the corpus uteri
Concept	213625		Leiomyosarcoma of the corpus uteri
Concept	213630		Primitive neuroectodermal tumor of the corpus uteri
Concept	2137		Autoimmune hepatitis
Concept	213711		Endometrial stromal sarcoma
Concept	213716		Squamous cell carcinoma of the corpus uteri
Concept	213721		Undifferentiated carcinoma of the corpus uteri
Concept	213726		Serous carcinoma of the corpus uteri
Concept	213731		High-grade neuroendocrine carcinoma of the corpus uteri
Concept	213736		Low-grade neuroendocrine tumor of the corpus uteri
Concept	213746		Transitional cell carcinoma of the corpus uteri
Concept	213751		Malignant germ cell tumor of the corpus uteri
Concept	213767		Squamous cell carcinoma of the cervix uteri
Concept	213772		Adenocarcinoma of the cervix uteri
Concept	213777		High-grade neuroendocrine carcinoma of the cervix uteri
Concept	213787		Carcinosarcoma of the cervix uteri
Concept	213792		Adenosarcoma of the cervix uteri
Concept	2138		46,XX ovotesticular difference of sex development
Concept	213802		Rhabdomyosarcoma of the cervix uteri
Concept	213807		Leiomyosarcoma of the cervix uteri
Concept	213812		Primitive neuroectodermal tumor of the cervix uteri
Concept	213823		Adenoid cystic carcinoma of the cervix uteri
Concept	213828		Adenoid basal carcinoma of the cervix uteri
Concept	213833		Glassy cell carcinoma of the cervix uteri
Concept	213837		Malignant germ cell tumor of the cervix uteri
Concept	2139		Hernández-Aguirre Negrete syndrome
Concept	214		Cystinuria
Concept	2140		Congenital diaphragmatic hernia
Concept	2141		Diaphragmatic defect-limb deficiency-skull defect syndrome
Concept	2143		Donnai-Barrow syndrome
Concept	2145		Craniosynostosis, Herrmann-Opitz type
Concept	2148		Lissencephaly type 1 due to doublecortin gene mutation
Concept	2149		Nodular neuronal heterotopia
Concept	215		Congenital stationary night blindness
Concept	2150		Hirschsprung disease-type D brachydactyly syndrome
Concept	2151		Hirschsprung disease-ganglioneuroblastoma syndrome
Concept	2152		Mowat-Wilson syndrome
Concept	2153		Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Concept	2155		Hirschsprung disease-deafness-polydactyly syndrome
Concept	2157		Histidinemia
Concept	2158		Histidinuria-renal tubular defect syndrome
Concept	2162		Holoprosencephaly
Concept	2163		Holoprosencephaly-craniosynostosis syndrome
Concept	2165		Holoprosencephaly-caudal dysgenesis syndrome
Concept	2166		Holoprosencephaly-postaxial polydactyly syndrome
Concept	216694		Congenitally corrected transposition of the great arteries
Concept	2167		Holzgreve syndrome
Concept	216718		Isolated congenitally uncorrected transposition of the great arteries
Concept	216729		Congenitally uncorrected transposition of the great arteries with cardiac malformation
Concept	216796		Osteogenesis imperfecta type 1
Concept	216804		Osteogenesis imperfecta type 2
Concept	216812		Osteogenesis imperfecta type 3
Concept	216820		Osteogenesis imperfecta type 4
Concept	216828		Osteogenesis imperfecta type 5
Concept	216866		Classic pantothenate kinase-associated neurodegeneration
Concept	216873		Atypical pantothenate kinase-associated neurodegeneration
Concept	2169		Methylcobalamin deficiency type cblE
Concept	216972		Niemann-Pick disease type C, severe perinatal form
Concept	216975		Niemann-Pick disease type C, severe early infantile neurologic onset
Concept	216978		Niemann-Pick disease type C, late infantile neurologic onset
Concept	216981		Niemann-Pick disease type C, juvenile neurologic onset
Concept	216986		Niemann-Pick disease type C, adult neurologic onset
Concept	217		Isolated Dandy-Walker malformation
Concept	2170		Methylcobalamin deficiency type cblG
Concept	217008		Bockenheimer syndrome
Concept	217012		Spinocerebellar ataxia type 31
Concept	217017		Zechi-Ceide syndrome
Concept	217026		Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Concept	217055		Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Concept	217059		Isolated congenital digital clubbing	Isolated nail clubbing
Concept	217064		5-fluorouracil poisoning
Concept	217067		Pouchitis
Concept	217080		Pulmonary fungal infections in patients deemed at risk
Concept	217085		Mucopolysaccharidosis type 2, severe form
Concept	217093		Mucopolysaccharidosis type 2, attenuated form
Concept	2172		Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Concept	217253		NMDA receptor encephalitis
Concept	217260		Progressive multifocal leukoencephalopathy
Concept	217266		BNAR syndrome
Concept	217330		REN-related autosomal dominant tubulointerstitial kidney disease
Concept	217335		RIN2 syndrome
Concept	217340		17q21.31 microduplication syndrome
Concept	217346		19q13.11 microdeletion syndrome
Concept	217371		Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Concept	217377		Microduplication Xp11.22p11.23 syndrome
Concept	217382		Neurodegenerative syndrome due to cerebral folate transport deficiency
Concept	217385		17p13.3 microduplication syndrome
Concept	217390		Combined immunodeficiency due to DOCK8 deficiency
Concept	217396		Progressive polyneuropathy with bilateral striatal necrosis
Concept	217399		Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
Concept	217407		Hereditary hypotrichosis with recurrent skin vesicles
Concept	217467		Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Concept	217557		Pulmonary interstitial glycogenosis
Concept	217560		Neuroendocrine cell hyperplasia of infancy
Concept	217563		Neonatal acute respiratory distress due to SP-B deficiency
Concept	217566		Chronic respiratory distress with surfactant metabolism deficiency
Concept	2176		Infantile systemic hyalinosis
Concept	217622		Sensorineural deafness with dilated cardiomyopathy
Concept	217656		Familial isolated arrhythmogenic right ventricular dysplasia	Inherited isolated arrhythmogenic cardiomyopathy
Concept	2177		Hydranencephaly
Concept	218		Darier disease
Concept	2180		Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Concept	2181		Hydrocephaly-tall stature-joint laxity syndrome
Concept	2182		Hydrocephalus with stenosis of the aqueduct of Sylvius
Concept	2183		Hydrocephalus-obesity-hypogonadism syndrome
Concept	2184		Hydrocephaly-low insertion umbilicus syndrome
Concept	2185		Congenital hydrocephalus
Concept	2186		Hydrocephalus-blue sclerae-nephropathy syndrome
Concept	2189		Hydrolethalus
Concept	219		Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Concept	2194		Version: Anti-HLA hyperimmunization		Removed this Concept
Concept	2195		Dicarboxylic aminoaciduria
Concept	2196		Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Concept	2197		Idiopathic hypercalciuria
Concept	2198		Palmoplantar keratoderma-esophageal carcinoma syndrome
Concept	2199		Epidermolytic palmoplantar keratoderma
Concept	22		Succinic semialdehyde dehydrogenase deficiency
Concept	220		Denys-Drash syndrome
Concept	2200		Focal palmoplantar and gingival keratoderma
Concept	2201		Palmoplantar keratoderma-spastic paralysis syndrome
Concept	2202		Palmoplantar keratoderma-deafness syndrome
Concept	220295		Xeroderma pigmentosum-Cockayne syndrome complex
Concept	2203		Hyperlysinemia
Concept	220386		Semilobar holoprosencephaly
Concept	220393		Diffuse cutaneous systemic sclerosis
Concept	2204		Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Concept	220402		Limited cutaneous systemic sclerosis
Concept	220407		Limited systemic sclerosis
Concept	220436		Quebec platelet disorder
Concept	220443		Bleeding diathesis due to thromboxane synthesis deficiency
Concept	220448		Macrothrombocytopenia with mitral valve insufficiency
Concept	220460		Attenuated familial adenomatous polyposis
Concept	220465		Laron syndrome with immunodeficiency
Concept	220493		Joubert syndrome with ocular defect
Concept	220497		Joubert syndrome with renal defect
Concept	2206		Ankylosing vertebral hyperostosis with tylosis
Concept	2209		Maternal phenylketonuria
Concept	221		Dermatomyositis
Concept	221008		Rothmund-Thomson syndrome type 1
Concept	221016		Rothmund-Thomson syndrome type 2
Concept	221039		Hereditary sclerosing poikiloderma, Weary type
Concept	221043		Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Concept	221046		Poikiloderma with neutropenia
Concept	221054		Acrocephalopolydactyly
Concept	221061		Familial cerebral cavernous malformation
Concept	221074		Marchiafava-Bignami disease
Concept	221078		Combined hyperactive dysfunction syndrome of the cranial nerves
Concept	221083		Hemifacial spasm
Concept	221091		Trigeminal neuralgia
Concept	221098		Glossopharyngeal neuralgia
Concept	2211		Hypertelorism-hypospadias-polysyndactyly syndrome
Concept	221117		Gerstmann syndrome
Concept	221120		Pseudoaminopterin syndrome
Concept	221126		Fowler vasculopathy
Concept	221139		Combined immunodeficiency with facio-oculo-skeletal anomalies
Concept	221142		Confetti-like macular atrophy
Concept	221145		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Concept	2213		Hypertelorism-microtia-facial clefting syndrome
Concept	2215		Multiple pterygium-malignant hyperthermia syndrome
Concept	2216		Maternal hyperthermia-induced birth defects
Concept	2218		Cervical hypertrichosis-peripheral neuropathy syndrome
Concept	222		Erosive pustular dermatosis of the scalp
Concept	2220		Hypertrichosis cubiti
Concept	2221		Acquired hypertrichosis lanuginosa
Concept	2222		Hypertrichosis lanuginosa congenita
Concept	2224		Hypertryptophanemia
Concept	2228		Hypodontia-dysplasia of nails syndrome
Concept	2229		Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Concept	223		Nephrogenic diabetes insipidus	Arginine vasopressin resistance
Concept	2230		Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Concept	2232		Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Concept	2233		Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Concept	2234		Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Concept	2235		Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Concept	2237		Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Concept	2238		Familial isolated hypoparathyroidism
Concept	2239		Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Concept	2241		Megacystis-microcolon-intestinal hypoperistalsis syndrome
Concept	2246		Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Concept	2248		Hypoplastic left heart syndrome
Concept	2249		Ulna hypoplasia-intellectual disability syndrome
Concept	225		Version: Maternally-inherited diabetes and deafness		Removed this Concept
Concept	2250		Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Concept	2251		Thumb deformity-alopecia-pigmentation anomaly syndrome
Concept	225123		TFR2-related hemochromatosis
Concept	225147		Sporadic infantile bilateral striatal necrosis
Concept	225154		Familial infantile bilateral striatal necrosis
Concept	2252		Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Concept	2253		Foveal hypoplasia-presenile cataract syndrome
Concept	2254		Pontocerebellar hypoplasia type 1
Concept	2255		Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Concept	2256		Fibulo-ulnar hypoplasia-renal anomalies syndrome
Concept	2257		Primary pulmonary hypoplasia
Concept	226		Dihydropteridine reductase deficiency
Concept	2260		Oligomeganephronia
Concept	2261		Hypospadias-intellectual disability, Goldblatt type syndrome
Concept	226307		Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Concept	226313		Congenital hypothyroidism due to maternal intake of antithyroid drugs
Concept	226316		Genetic transient congenital hypothyroidism
Concept	2266		Hypotrichosis-intellectual disability, Lopes type
Concept	2268		ICF syndrome
Concept	2269		Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Concept	227		Diphallia
Concept	2271		Congenital ichthyosis-microcephalus-tetraplegia syndrome
Concept	2272		Ichthyosis-oral and digital anomalies syndrome
Concept	2273		Ichthyosis follicularis-alopecia-photophobia syndrome
Concept	2274		Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Concept	227510		Multiple system atrophy, cerebellar type
Concept	227535		Hereditary breast cancer
Concept	227796		Fundus albipunctatus
Concept	2278		Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Concept	227972		Toxic oil syndrome
Concept	227976		Autosomal recessive optic atrophy, OPA7 type
Concept	227982		Autoimmune polyendocrinopathy type 3
Concept	227990		Autoimmune polyendocrinopathy type 4
Concept	228000		Idiopathic CD4 lymphocytopenia
Concept	228003		Severe combined immunodeficiency due to CORO1A deficiency
Concept	228012		Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Concept	228113		Anal fistula
Concept	228116		Hughes-Stovin syndrome
Concept	228119		Fusariosis
Concept	228123		Coccidioidomycosis
Concept	228140		Idiopathic ventricular fibrillation, non Brugada type
Concept	228157		Marburg acute multiple sclerosis
Concept	228165		Baló concentric sclerosis
Concept	228169		Autosomal dominant striatal neurodegeneration
Concept	228174		Autosomal dominant Charcot-Marie-Tooth disease type 2N
Concept	228179		Autosomal dominant Charcot-Marie-Tooth disease type 2M
Concept	228190		Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Concept	2282		Dysmorphism-short stature-deafness-difference of sex development syndrome
Concept	228227		Late-onset focal dermal elastosis
Concept	228236		Linear focal elastosis
Concept	228240		Elastoderma
Concept	228243		Elastofibroma dorsi
Concept	228247		Acquired pseudoxanthoma elasticum
Concept	228254		Elastoma
Concept	228264		Papular elastorrhexis
Concept	228272		Primary anetoderma
Concept	228277		Familial anetoderma
Concept	228285		Acquired cutis laxa
Concept	228290		White fibrous papulosis of the neck
Concept	228293		Pseudoxanthoma elasticum-like papillary dermal elastolysis
Concept	228299		Mid-dermal elastolysis
Concept	228302		Carnitine palmitoyl transferase II deficiency, myopathic form
Concept	228305		Carnitine palmitoyl transferase II deficiency, severe infantile form
Concept	228308		Carnitine palmitoyl transferase II deficiency, neonatal form
Concept	228329		CLN1 disease
Concept	228337		CLN10 disease
Concept	228340		Version: CLN4A disease		Removed this Concept
Concept	228343		CLN4B disease	CLN4 disease
Concept	228346		CLN3 disease
Concept	228349		CLN2 disease
Concept	228354		CLN8 disease
Concept	228357		Version: CLN9 disease		Removed this Concept
Concept	228360		CLN5 disease
Concept	228363		CLN6 disease
Concept	228366		CLN7 disease
Concept	228371		Foodborne botulism
Concept	228374		Charcot-Marie-Tooth disease type 2B5
Concept	228379		Virus-associated trichodysplasia spinulosa
Concept	228384		5q14.3 microdeletion syndrome
Concept	228387		Spondylo-megaepiphyseal-metaphyseal dysplasia
Concept	228390		Frontonasal dysplasia-alopecia-genital anomalies syndrome
Concept	228396		Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Concept	228399		8q12 microduplication syndrome
Concept	228402		2q23.1 microdeletion syndrome
Concept	228410		Polyvalvular heart disease syndrome	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Concept	228415		5q35 microduplication syndrome
Concept	228423		Monocytopenia with susceptibility to infections	GATA2 deficiency spectrum
Concept	228426		Syndromic multisystem autoimmune disease due to Itch deficiency
Concept	2285		Primary basilar invagination
Concept	2287		Fused mandibular incisors
Concept	2289		Neuronal intranuclear inclusion disease
Concept	229		Familial aortic dissection
Concept	2290		Microvillus inclusion disease
Concept	2291		Congenital velopharyngeal incompetence
Concept	2295		Familial articular hypermobility syndrome
Concept	2297		Insulin-resistance syndrome type A
Concept	229717		Isolated agammaglobulinemia
Concept	2298		Insulin-resistance syndrome type B
Concept	2299		Aortic arch interruption
Concept	23		Argininosuccinic aciduria
Concept	230		Dopamine beta-hydroxylase deficiency
Concept	2300		Multiple intestinal atresia
Concept	2301		Congenital short bowel syndrome
Concept	2302		Asbestos intoxication
Concept	2305		Isotretinoin syndrome
Concept	2306		Isotretinoin-like syndrome
Concept	2307		IVIC syndrome
Concept	2308		Jacobsen syndrome
Concept	230800		Toxin-mediated infectious botulism
Concept	230839		Classical-like Ehlers-Danlos syndrome type 1
Concept	230851		Cardiac-valvular Ehlers-Danlos syndrome
Concept	230857		Ehlers-Danlos/osteogenesis imperfecta syndrome
Concept	2309		Pachyonychia congenita
Concept	231		Dracunculiasis
Concept	2310		Absence deformity of leg-cataract syndrome
Concept	231013		Congenital trigeminal anesthesia
Concept	231031		Erythema palmare hereditarium
Concept	231040		Familial generalized lentiginosis
Concept	231080		High-grade dysplasia in patients with Barrett esophagus
Concept	2311		Autosomal recessive spondylocostal dysostosis
Concept	231108		Rhabdoid tumor predisposition syndrome
Concept	231111		Drug-induced lupus erythematosus
Concept	231117		Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Concept	231120		Beckwith-Wiedemann syndrome due to CDKN1C mutation
Concept	231127		Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Concept	231130		Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Concept	231137		Silver-Russell syndrome due to 7p11.2p13 microduplication
Concept	231140		Silver-Russell syndrome due to an imprinting defect of 11p15
Concept	231144		Silver-Russell syndrome due to 11p15 microduplication
Concept	231147		Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Concept	231154		Combined immunodeficiency due to partial RAG1 deficiency
Concept	231160		Familial cerebral saccular aneurysm
Concept	231169		Usher syndrome type 1
Concept	231178		Usher syndrome type 2
Concept	231183		Usher syndrome type 3
Concept	2312		Transient familial neonatal hyperbilirubinemia
Concept	231214		Beta-thalassemia major
Concept	231222		Beta-thalassemia intermedia
Concept	231226		Dominant beta-thalassemia
Concept	231237		Delta-beta-thalassemia
Concept	231242		Hemoglobin C-beta-thalassemia syndrome
Concept	231249		Hemoglobin E-beta-thalassemia syndrome
Concept	231393		Beta-thalassemia-X-linked thrombocytopenia syndrome
Concept	2314		Autosomal dominant hyper-IgE syndrome	Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
Concept	231401		Alpha-thalassemia-myelodysplastic syndrome
Concept	231426		Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Concept	231445		Paraparetic variant of Guillain-Barré syndrome
Concept	231450		Acute pure sensory neuropathy
Concept	231457		Acute pandysautonomia
Concept	231466		Acute sensory ataxic neuropathy
Concept	2315		Johanson-Blizzard syndrome
Concept	231500		Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Concept	231512		Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Concept	231531		Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Concept	231556		Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Concept	231568		Autosomal dominant generalized dystrophic epidermolysis bullosa
Concept	231573		Congenital erosive and vesicular dermatosis
Concept	231580		Primary unilateral adrenal hyperplasia
Concept	2316		Johnson neuroectodermal syndrome
Concept	231625		Adrenocortical carcinoma with pure aldosterone hypersecretion
Concept	231632		Ectopic aldosterone-producing tumor
Concept	231662		Isolated growth hormone deficiency type IA
Concept	231671		Isolated growth hormone deficiency type IB
Concept	231679		Isolated growth hormone deficiency type II
Concept	231692		Isolated growth hormone deficiency type III
Concept	231720		Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Concept	231736		Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Concept	231742		Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Concept	2318		Joubert syndrome with oculorenal defect
Concept	2319		Juberg-Hayward syndrome
Concept	232		Sickle cell anemia
Concept	2321		Jung syndrome
Concept	2322		Kabuki syndrome
Concept	2323		Sanjad-Sakati syndrome
Concept	2324		Osteopenia-intellectual disability-sparse hair syndrome
Concept	2325		Epidermolysis bullosa simplex with anodontia/hypodontia
Concept	2326		Kallmann syndrome-heart disease syndrome
Concept	2328		Kapur-Toriello syndrome
Concept	2329		Karsch-Neugebauer syndrome
Concept	233		Duane retraction syndrome
Concept	2330		Kasabach-Merritt syndrome	Kasabach-Merritt phenomenon
Concept	2331		Kawasaki disease
Concept	2332		KBG syndrome
Concept	2333		Kenny-Caffey syndrome
Concept	2334		Autosomal dominant keratitis
Concept	2337		Non-epidermolytic palmoplantar keratoderma	Diffuse palmoplantar keratoderma, Bothnian type
Concept	2339		Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Concept	234		Dubin-Johnson syndrome
Concept	2340		Keratosis follicularis spinulosa decalvans
Concept	2342		Haim-Munk syndrome
Concept	2345		Isolated Klippel-Feil syndrome
Concept	2347		Lethal Kniest-like dysplasia
Concept	2348		Familial partial lipodystrophy, Dunnigan type
Concept	2349		Muscular pseudohypertrophy-hypothyroidism syndrome
Concept	235		Dubowitz syndrome
Concept	2351		Kousseff syndrome
Concept	2353		Schilbach-Rott syndrome
Concept	2356		Arachnoid cyst
Concept	2357		Bronchogenic cyst
Concept	236		Trisomy 9p
Concept	2363		Lacrimoauriculodentodigital syndrome
Concept	2364		Glycogen storage disease due to lactate dehydrogenase deficiency
Concept	2368		Gastroschisis
Concept	2369		Limb body wall complex
Concept	237		Duplication of urethra
Concept	2370		Larsen-like osseous dysplasia-short stature syndrome
Concept	2371		Lethal Larsen-like syndrome
Concept	2372		Laryngocele
Concept	2373		Congenital laryngomalacia
Concept	2374		Congenital laryngeal web	Isolated congenital laryngeal web
Concept	2375		Laryngeal abductor paralysis-intellectual disability syndrome
Concept	2377		Laurence-Moon syndrome
Concept	2378		Laurin-Sandrow syndrome
Concept	2379		Early-onset parkinsonism-intellectual disability syndrome
Concept	238		Version: Digestive duplication		Removed this Concept
Concept	2380		Legg-Calvé-Perthes disease
Concept	2382		Lennox-Gastaut syndrome
Concept	238269		AApoAII amyloidosis
Concept	238305		Infundibulo-neurohypophysitis
Concept	238329		Severe X-linked mitochondrial encephalomyopathy
Concept	238446		15q11q13 microduplication syndrome
Concept	238455		Infantile dystonia-parkinsonism
Concept	238459		SLC35A1-CDG
Concept	238468		Hypohidrotic ectodermal dysplasia
Concept	238475		Familial hypercholanemia
Concept	238505		Combined immunodeficiency due to CD27 deficiency
Concept	238523		Atypical hypotonia-cystinuria syndrome
Concept	238557		Chuvash erythrocytosis
Concept	238569		Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Concept	238578		Familial clubfoot due to 17q23.1q23.2 microduplication
Concept	238583		Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Concept	238593		IgG4-related mesenteritis
Concept	2386		Leukoencephalopathy-palmoplantar keratoderma syndrome
Concept	238606		Primary orthostatic tremor
Concept	238613		Beckwith-Wiedemann syndrome due to NSD1 mutation
Concept	238621		Ileal pouch anal anastomosis related faecal incontinence
Concept	238624		Idiopathic intracranial hypertension
Concept	238637		Megacystis-megaureter syndrome
Concept	238642		Primary megaureter, adult-onset form
Concept	238646		Congenital primary megaureter, obstructed form
Concept	238650		Congenital primary megaureter, refluxing form
Concept	238654		Congenital primary megaureter, nonrefluxing and unobstructed form
Concept	238666		Isolated congenital hypogonadotropic hypogonadism
Concept	238670		Isolated thyrotropin-releasing hormone deficiency
Concept	238688		Neonatal iodine exposure
Concept	2387		Leukonychia totalis
Concept	238722		Familial congenital mirror movements
Concept	238744		Mammary-digital-nail syndrome
Concept	238750		4q21 microdeletion syndrome
Concept	238763		Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Concept	238769		1q44 microdeletion syndrome
Concept	2388		Choreoacanthocytosis
Concept	239		Dyggve-Melchior-Clausen disease
Concept	2390		Lichtenstein syndrome
Concept	2391		Congenitally short costocoracoid ligament
Concept	2394		Pyruvate dehydrogenase E3 deficiency
Concept	2396		Encephalocraniocutaneous lipomatosis
Concept	2398		Multiple symmetric lipomatosis
Concept	2399		Nasopalpebral lipoma-coloboma syndrome
Concept	24		Fumaric aciduria
Concept	240		Léri-Weill dyschondrosteosis
Concept	2400		Peripheral motor neuropathy-dysautonomia syndrome
Concept	240071		Classic progressive supranuclear palsy syndrome
Concept	240085		Progressive supranuclear palsy-parkinsonism syndrome	Progressive supranuclear palsy-predominant parkinsonism syndrome
Concept	240094		Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Concept	240103		Progressive supranuclear palsy-corticobasal syndrome
Concept	240112		Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Concept	2404		Loiasis
Concept	2405		Thickened earlobes-conductive deafness syndrome
Concept	2406		Locked-in syndrome
Concept	2407		Laryngo-onycho-cutaneous syndrome
Concept	240760		Nijmegen breakage syndrome-like disorder
Concept	2408		Lowe-Kohn-Cohen syndrome
Concept	2409		Lowry-MacLean syndrome
Concept	241		Dyschromatosis universalis hereditaria
Concept	2410		Hypergonadotropic hypogonadism-cataract syndrome
Concept	2412		Dislocation of the hip-dysmorphism syndrome
Concept	2414		Congenital pulmonary lymphangiectasia
Concept	242		46,XY complete gonadal dysgenesis
Concept	2420		Primary pulmonary lymphoma
Concept	2427		Macrocephaly-short stature-paraplegia syndrome
Concept	2429		Macrocephaly-spastic paraplegia-dysmorphism syndrome
Concept	243		46,XX gonadal dysgenesis
Concept	2430		Congenital macroglossia
Concept	2432		Macrosomia-microphthalmia-cleft palate syndrome
Concept	243343		Dimethylglycine dehydrogenase deficiency
Concept	243367		Acute fatty liver of pregnancy
Concept	2435		Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Concept	2437		Czeizel-Losonci syndrome
Concept	2438		Hand-foot-genital syndrome
Concept	2439		Patterson-Stevenson-Fontaine syndrome
Concept	244		Primary ciliary dyskinesia
Concept	2440		Isolated split hand-split foot malformation
Concept	244242		HELLP syndrome
Concept	244275		De novo thrombotic microangiopathy after kidney transplantation
Concept	244283		Biliary atresia with splenic malformation syndrome
Concept	244305		Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Concept	244310		RFT1-CDG
Concept	2444		Congenital pulmonary airway malformation
Concept	245		Nager syndrome
Concept	2451		Mucocutaneous venous malformations
Concept	2456		Familial supernumerary nipples
Concept	2457		Mandibuloacral dysplasia
Concept	2459		Mansonelliasis
Concept	246		Postaxial acrofacial dysostosis
Concept	2460		Van den Ende-Gupta syndrome
Concept	2461		Marden-Walker syndrome
Concept	2462		Shprintzen-Goldberg syndrome
Concept	2463		Marfanoid habitus-autosomal recessive intellectual disability syndrome
Concept	2464		Marfanoid syndrome, De Silva type
Concept	2466		MASA syndrome
Concept	2470		Matthew-Wood syndrome
Concept	2471		McDonough syndrome
Concept	247165		Infantile mercury poisoning
Concept	247198		Progressive cerebello-cerebral atrophy
Concept	247203		Collecting duct carcinoma
Concept	247234		Sporadic adult-onset ataxia of unknown etiology
Concept	247245		Superficial siderosis
Concept	247257		Inhalational anthrax
Concept	247262		Hyperphosphatasia-intellectual disability syndrome
Concept	2473		McKusick-Kaufman syndrome
Concept	247353		Generalized pustular psoriasis
Concept	247378		Autosomal recessive secondary polycythemia not associated with VHL gene
Concept	2475		White forelock with malformations
Concept	247511		Autosomal dominant secondary polycythemia
Concept	247522		Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Concept	247525		Citrullinemia type I
Concept	247546		Acute neonatal citrullinemia type I
Concept	247573		Late-onset citrullinemia type I
Concept	247585		Citrullinemia type II
Concept	247598		Neonatal intrahepatic cholestasis due to citrin deficiency
Concept	2476		Dysraphism-cleft lip/palate-limb reduction defects syndrome
Concept	247604		Juvenile primary lateral sclerosis
Concept	247623		Perinatal lethal hypophosphatasia
Concept	247638		Prenatal benign hypophosphatasia
Concept	247651		Infantile hypophosphatasia
Concept	247667		Childhood-onset hypophosphatasia
Concept	247676		Adult hypophosphatasia
Concept	247685		Odontohypophosphatasia
Concept	247691		Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Concept	247698		Multiple endocrine neoplasia type 2A
Concept	2477		Megalencephaly
Concept	247709		Multiple endocrine neoplasia type 2B
Concept	247718		Inflammatory myopathy with abundant macrophages
Concept	247724		Idiopathic eosinophilic myositis
Concept	247762		Lipoblastoma
Concept	247768		Müllerian aplasia and hyperandrogenism
Concept	247775		Mayer-Rokitansky-Küster-Hauser syndrome type 1
Concept	247790		FTH1-related iron overload
Concept	247794		Juvenile cataract-microcornea-renal glucosuria syndrome
Concept	247798		MUTYH-related attenuated familial adenomatous polyposis
Concept	2478		Megalencephalic leukoencephalopathy with subcortical cysts
Concept	247806		APC-related attenuated familial adenomatous polyposis
Concept	247815		Autosomal recessive ataxia due to PEX10 deficiency
Concept	247820		Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
Concept	247827		Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
Concept	247834		Occult macular dystrophy
Concept	247868		NLRP12-associated hereditary periodic fever syndrome
Concept	2479		Megalocornea-intellectual disability syndrome
Concept	248		Autosomal recessive hypohidrotic ectodermal dysplasia
Concept	2481		Neurocutaneous melanocytosis
Concept	248111		Juvenile Huntington disease
Concept	2482		Melhem-Fahl syndrome
Concept	2483		Melkersson-Rosenthal syndrome
Concept	248340		Isolated delta-storage pool disease
Concept	2484		Melnick-Needles syndrome
Concept	248408		Familial hypodysfibrinogenemia
Concept	2485		Melorheostosis
Concept	2487		Lower limb malformation-hypospadias syndrome
Concept	2489		Upper limb defect-eye and ear abnormalities syndrome
Concept	249		Fibrous dysplasia of bone
Concept	2491		Müllerian duct anomalies-limb anomalies syndrome
Concept	2492		FATCO syndrome
Concept	2494		Ménétrier disease
Concept	2495		Meningioma
Concept	2496		Mesomelia-synostoses syndrome
Concept	2497		Upper limb mesomelic dysplasia	Upper limb mesomelic dysplasia, type Fryns
Concept	2498		Syndactyly type 8
Concept	2499		Metachondromatosis
Concept	25		Glutaryl-CoA dehydrogenase deficiency
Concept	2500		Acrogeria
Concept	2501		Metaphyseal chondrodysplasia, Spahr type
Concept	2502		Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Concept	2504		Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Concept	2505		Multiple benign circumferential skin creases on limbs
Concept	2508		Corpus callosum agenesis-abnormal genitalia syndrome
Concept	250831		Logopenic progressive aphasia
Concept	250923		Isolated aniridia
Concept	250932		Autosomal dominant optic atrophy and peripheral neuropathy
Concept	250972		Polymicrogyria with optic nerve hypoplasia
Concept	250977		AICA-ribosiduria
Concept	250984		Autosomal recessive Stickler syndrome
Concept	250989		1q21.1 microdeletion syndrome
Concept	250994		1q21.1 microduplication syndrome
Concept	250999		1q41q42 microdeletion syndrome
Concept	2510		Micro syndrome
Concept	251004		Paternal uniparental disomy of chromosome 1
Concept	251009		Maternal uniparental disomy of chromosome 1
Concept	251014		2q31.1 microdeletion syndrome
Concept	251019		2q32q33 microdeletion syndrome
Concept	251028		SATB2-associated syndrome due to a chromosomal rearrangement
Concept	251038		3q29 microduplication syndrome
Concept	251043		Ring chromosome 5 syndrome
Concept	251046		6p22 microdeletion syndrome
Concept	251056		6q25 microdeletion syndrome	6q25.2q25.3 microdeletion syndrome
Concept	251061		7q31 microdeletion syndrome
Concept	251066		8p11.2 deletion syndrome
Concept	251071		8p23.1 microdeletion syndrome
Concept	251076		8p23.1 duplication syndrome
Concept	2511		Microbrachycephaly-ptosis-cleft lip syndrome
Concept	2512		Autosomal recessive primary microcephaly
Concept	251262		Familial osteochondritis dissecans
Concept	251274		Familial hyperaldosteronism type III
Concept	251279		Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Concept	251282		Autosomal dominant spastic ataxia type 1
Concept	251287		Benign concentric annular macular dystrophy
Concept	251290		Parietal foramina with clavicular hypoplasia
Concept	251295		Pigmented paravenous retinochoroidal atrophy
Concept	2513		Microcephaly-albinism-digital anomalies syndrome
Concept	251304		Infantile onset panniculitis with uveitis and systemic granulomatosis
Concept	251307		Idiopathic recurrent pericarditis
Concept	251325		Drug-induced vasculitis
Concept	251328		Unclassified vasculitis
Concept	251332		Unexplained long-lasting fever/inflammatory syndrome
Concept	251347		Ataxia-telangiectasia-like disorder
Concept	251359		Sickle cell-beta-thalassemia disease syndrome
Concept	251365		Sickle cell-hemoglobin C disease syndrome
Concept	251370		Sickle cell-hemoglobin D disease syndrome
Concept	251375		Sickle cell-hemoglobin E disease syndrome
Concept	251380		Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Concept	251383		CK syndrome
Concept	251393		Localized junctional epidermolysis bullosa
Concept	2514		Autosomal dominant primary microcephaly
Concept	2515		Microcephaly-cardiomyopathy syndrome
Concept	251510		46,XY partial gonadal dysgenesis
Concept	251515		Distal arthrogryposis type 10
Concept	251523		Hyperzincemia and hypercalprotectinemia
Concept	251576		Gliosarcoma
Concept	251579		Giant cell glioblastoma
Concept	251582		Gliomatosis cerebri
Concept	251589		Anaplastic astrocytoma
Concept	251595		Diffuse astrocytoma
Concept	251598		Protoplasmic astrocytoma
Concept	2516		Microcephaly-cardiac defect-lung malsegmentation syndrome
Concept	251601		Fibrillary astrocytoma
Concept	251604		Gemistocytic astrocytoma
Concept	251607		Pleomorphic xanthoastrocytoma
Concept	251612		Pilocytic astrocytoma
Concept	251615		Pilomyxoid astrocytoma
Concept	251618		Subependymal giant cell astrocytoma
Concept	251623		Pituicytoma
Concept	251627		Oligodendroglioma
Concept	251630		Anaplastic oligodendroglioma
Concept	251636		Ependymoma
Concept	251639		Subependymoma
Concept	251643		Myxopapillary ependymoma
Concept	251646		Anaplastic ependymoma
Concept	251656		Oligoastrocytoma
Concept	251663		Anaplastic oligoastrocytoma
Concept	251671		Angiocentric glioma
Concept	251674		Chordoid glioma
Concept	251679		Astroblastoma
Concept	2518		Autosomal recessive chorioretinopathy-microcephaly syndrome
Concept	251855		Anaplastic/large cell medulloblastoma
Concept	251858		Medulloblastoma with extensive nodularity
Concept	251863		Desmoplastic/nodular medulloblastoma
Concept	251867		Classic medulloblastoma
Concept	251877		Ganglioneuroblastoma
Concept	251880		Version: Ependymoblastoma		Removed this Concept
Concept	251883		Version: Medulloepithelioma of the central nervous system		Removed this Concept
Concept	251899		Choroid plexus carcinoma
Concept	2519		Microcephaly-seizures-intellectual disability-heart disease syndrome
Concept	251902		Atypical papilloma of choroid plexus
Concept	251909		Pineoblastoma
Concept	251912		Pineocytoma
Concept	251915		Papillary tumor of the pineal region
Concept	251919		Pineal parenchymal tumor of intermediate differenciation	Pineal parenchymal tumor of intermediate differentiation
Concept	251927		Extraventricular neurocytoma
Concept	251931		Cerebellar liponeurocytoma
Concept	251937		Gangliocytoma
Concept	251940		Desmoplastic infantile astrocytoma/ganglioglioma
Concept	251946		Dysembryoplastic neuroepithelial tumor
Concept	251949		Ganglioglioma
Concept	251957		Anaplastic ganglioglioma
Concept	251962		Papillary glioneuronal tumor
Concept	251975		Rosette-forming glioneuronal tumor
Concept	251992		Ganglioneuroma
Concept	252006		Yolk sac tumor of central nervous system
Concept	252015		Choriocarcinoma of the central nervous system
Concept	252018		Teratoma of the central nervous system
Concept	252021		Mixed germ cell tumor of central nervous system
Concept	252031		Diffuse leptomeningeal melanocytosis
Concept	252046		Meningeal melanocytoma
Concept	252050		Primary melanoma of the central nervous system
Concept	252054		Hemangioblastoma
Concept	2521		Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Concept	252128		Malignant peripheral nerve sheath tumor with perineurial differentiation
Concept	252164		Benign schwannoma
Concept	252175		Vestibular schwannoma
Concept	252183		Neurofibroma
Concept	2522		Microcephaly-cervical spine fusion anomalies syndrome
Concept	252202		Constitutional mismatch repair deficiency syndrome
Concept	252206		Melanoma and neural system tumor syndrome
Concept	252212		Malignant triton tumor
Concept	2523		Microcephaly-brain defect-spasticity-hypernatremia syndrome
Concept	2524		Pontocerebellar hypoplasia type 2
Concept	2526		Microcephaly-lymphedema-chorioretinopathy syndrome
Concept	2528		Microcephaly-microcornea syndrome, Seemanova type
Concept	2533		Microcephaly-deafness-intellectual disability syndrome
Concept	2536		Microcornea-glaucoma-absent frontal sinuses syndrome
Concept	2538		Microgastria-limb reduction defect syndrome
Concept	254334		Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Concept	254343		Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Concept	254346		19p13.12 microdeletion syndrome
Concept	254351		Distal 7q11.23 microdeletion syndrome
Concept	254361		Plectin-related limb-girdle muscular dystrophy R17
Concept	254379		Linear lichen planus
Concept	254395		Actinic lichen planus
Concept	254411		Annular atrophic lichen planus
Concept	254424		Annular lichen planus
Concept	254449		Atrophic lichen planus
Concept	254463		Lichen planus pigmentosus
Concept	254478		Lichen planus pemphigoides
Concept	254492		Frontal fibrosing alopecia
Concept	254504		Inhalational botulism
Concept	254509		Iatrogenic botulism
Concept	254516		Temple syndrome
Concept	254519		Kagami-Ogata syndrome
Concept	254525		Temple syndrome due to paternal 14q32.2 microdeletion
Concept	254528		Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Concept	254531		Temple syndrome due to paternal 14q32.2 hypomethylation
Concept	254534		Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Concept	254688		Complete hydatidiform mole
Concept	254693		Partial hydatidiform mole
Concept	254698		Epithelioid trophoblastic tumor
Concept	2547		Microphthalmia-microtia-fetal akinesia syndrome
Concept	254704		Genetic hyperferritinemia without iron overload
Concept	254851		Mitochondrial DNA-related dystonia
Concept	254854		Pure mitochondrial myopathy
Concept	254857		Lethal infantile mitochondrial myopathy
Concept	254864		Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Concept	254875		Mitochondrial DNA depletion syndrome, myopathic form
Concept	254881		Spinocerebellar ataxia with epilepsy
Concept	254886		Autosomal recessive progressive external ophthalmoplegia
Concept	254892		Autosomal dominant progressive external ophthalmoplegia
Concept	254898		Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Concept	2549		Oculoauriculovertebral spectrum with radial defects
Concept	254902		Renal tubulopathy-encephalopathy-liver failure syndrome
Concept	254905		Isolated cytochrome C oxidase deficiency
Concept	254913		Isolated ATP synthase deficiency
Concept	254920		Combined oxidative phosphorylation defect type 2
Concept	254925		Combined oxidative phosphorylation defect type 4
Concept	254930		Combined oxidative phosphorylation defect type 7
Concept	2551		Microspherophakia-metaphyseal dysplasia syndrome
Concept	255132		Adult-onset autosomal recessive sideroblastic anemia
Concept	255138		Pyruvate dehydrogenase E1-beta deficiency
Concept	255182		Pyruvate dehydrogenase E3-binding protein deficiency
Concept	2552		Microsporidiosis
Concept	255210		Mitochondrial DNA-associated Leigh syndrome
Concept	255229		Navajo neurohepatopathy
Concept	255235		Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Concept	2554		Ear-patella-short stature syndrome
Concept	2556		Microphthalmia with linear skin defects syndrome
Concept	2557		Mietens syndrome
Concept	2558		Mikati-Najjar-Sahli syndrome
Concept	256		Early-onset generalized limb-onset dystonia
Concept	2560		Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Concept	2561		Pyramidal molars-abnormal upper lip syndrome
Concept	2563		MOMO syndrome
Concept	2564		Tetramelic monodactyly
Concept	2565		Mononen-Karnes-Senac syndrome
Concept	2566		Chronic Epstein-Barr virus infection syndrome
Concept	257		Epidermolysis bullosa simplex with muscular dystrophy
Concept	2570		Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Concept	2571		X-linked immunoneurologic disorder
Concept	2572		Spastic ataxia-corneal dystrophy syndrome
Concept	2573		Moyamoya disease
Concept	2574		Moynahan syndrome
Concept	2575		Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Concept	2576		Mulibrey nanism
Concept	2578		Mayer-Rokitansky-Küster-Hauser syndrome type 2
Concept	2579		Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Concept	258		Laminin subunit alpha 2-related congenital muscular dystrophy
Concept	2582		Myalgia-eosinophilia syndrome associated with tryptophan
Concept	2583		Mycetoma
Concept	2584		Classic mycosis fungoides
Concept	2585		Ataxia-pancytopenia syndrome
Concept	2587		Myeloperoxidase deficiency
Concept	2588		Myhre syndrome
Concept	2589		Myoclonus-cerebellar ataxia-deafness syndrome
Concept	2590		Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Concept	2591		Infantile myofibromatosis
Concept	2593		Tubular aggregate myopathy
Concept	2596		Myopathy and diabetes mellitus
Concept	25968		Benign occipital epilepsy
Concept	2597		Mitochondrial myopathy-lactic acidosis-deafness syndrome
Concept	2598		Mitochondrial myopathy and sideroblastic anemia
Concept	25980		X-linked myopathy with excessive autophagy
Concept	26		Methylmalonic acidemia with homocystinuria
Concept	260305		Autosomal recessive sideroblastic anemia
Concept	2604		Familial visceral myopathy
Concept	2608		N syndrome
Concept	2609		Isolated complex I deficiency
Concept	261		Emery-Dreifuss muscular dystrophy
Concept	26106		Hereditary diffuse gastric cancer
Concept	2611		Linear verrucous nevus syndrome
Concept	261102		Distal 7q11.23 microduplication syndrome
Concept	261112		Monosomy 9p
Concept	261120		14q11.2 microdeletion syndrome
Concept	261144		FOXG1 syndrome due to 14q12 microdeletion
Concept	261183		15q11.2 microdeletion syndrome
Concept	261190		15q14 microdeletion syndrome	Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Concept	261197		Proximal 16p11.2 microdeletion syndrome
Concept	2612		Linear nevus sebaceus syndrome
Concept	261204		16p11.2p12.2 microduplication syndrome
Concept	261211		16p11.2p12.2 microdeletion syndrome
Concept	261222		Distal 16p11.2 microdeletion syndrome
Concept	261229		14q11.2 microduplication syndrome
Concept	261236		16p13.11 microdeletion syndrome
Concept	261243		16p13.11 microduplication syndrome
Concept	261250		16q24.3 microdeletion syndrome
Concept	261257		Distal 17p13.3 microdeletion syndrome
Concept	261265		17q12 microdeletion syndrome
Concept	261272		17q12 microduplication syndrome
Concept	261279		17q23.1q23.2 microdeletion syndrome
Concept	261290		Trisomy 17p
Concept	261295		20p12.3 microdeletion syndrome
Concept	2613		Nail-patella-like renal disease
Concept	261304		Paternal 20q13.2q13.3 microdeletion syndrome
Concept	261311		20q13.33 microdeletion syndrome
Concept	261318		Trisomy 20p
Concept	261323		21q22.11q22.12 microdeletion syndrome
Concept	261330		Distal 22q11.2 microdeletion syndrome
Concept	261337		Distal 22q11.2 microduplication syndrome
Concept	261344		Trisomy 1q
Concept	261349		2p15p16.1 microdeletion syndrome
Concept	26137		Juvenile temporal arteritis
Concept	2614		Nail-patella syndrome
Concept	261476		Xp21 deletion syndrome
Concept	261483		Xq27.3q28 duplication syndrome
Concept	261494		Kleefstra syndrome
Concept	261501		Atypical Norrie disease due to Xp11.3 microdeletion
Concept	261519		Maternal uniparental disomy of chromosome X
Concept	261524		Paternal uniparental disomy of chromosome X
Concept	261529		Ring chromosome Y syndrome
Concept	261534		49,XXXYY syndrome
Concept	261537		Mowat-Wilson syndrome due to monosomy 2q22
Concept	261552		Mowat-Wilson syndrome due to a ZEB2 point mutation
Concept	261584		Familial adenomatous polyposis due to 5q22.2 microdeletion
Concept	2616		3M syndrome
Concept	261600		Alagille syndrome due to 20p12 microdeletion
Concept	261619		Alagille syndrome due to a JAG1 point mutation
Concept	261629		Alagille syndrome due to a NOTCH2 point mutation
Concept	261638		Okihiro syndrome due to 20q13 microdeletion
Concept	261647		Okihiro syndrome due to a point mutation
Concept	261652		Kleefstra syndrome due to a point mutation
Concept	2617		Microcephalic primordial dwarfism, Montreal type
Concept	2619		Brachydactylous dwarfism, Mseleni type
Concept	2623		Geleophysic dysplasia
Concept	2631		Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Concept	2632		Langer mesomelic dysplasia
Concept	263297		Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Concept	2633		Mesomelic dysplasia, Nievergelt type
Concept	263310		Thymoma type A
Concept	263317		Thymoma type B
Concept	263324		Thymoma type AB
Concept	263331		Well-differentiated thymic neuroendocrine carcinoma
Concept	263335		Moderately-differentiated thymic neuroendocrine carcinoma
Concept	263339		Poorly differentiated thymic neuroendocrine carcinoma
Concept	263347		MRCS syndrome
Concept	263352		Postcardiotomy right ventricular failure
Concept	2634		Mesomelic dwarfism, Reinhardt-Pfeiffer type
Concept	263410		Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Concept	263413		Angiosarcoma
Concept	263425		Nevus of Ota
Concept	263432		Nevus of Ito
Concept	263435		Congenital smooth muscle hamartoma
Concept	263455		Congenital hyperinsulinism due to HNF4A deficiency
Concept	263458		Hyperinsulinism due to INSR deficiency
Concept	263463		CHST3-related skeletal dysplasia
Concept	263479		Fuchs heterochromic iridocyclitis
Concept	26348		Acquired prothrombin deficiency
Concept	263482		Spondyloepiphyseal dysplasia, Maroteaux type	Spondyloepimetaphyseal dysplasia, Maroteaux type
Concept	263487		COG5-CDG
Concept	26349		Protein S acquired deficiency
Concept	263494		DPM3-CDG
Concept	2635		Metatropic dysplasia
Concept	263501		COG4-CDG
Concept	263508		COG1-CDG
Concept	263516		Progressive myoclonic epilepsy type 3
Concept	263524		Acute necrotizing encephalopathy of childhood
Concept	263534		Acral peeling skin syndrome
Concept	263543		Generalized peeling skin syndrome
Concept	263548		Peeling skin syndrome type A
Concept	263553		Peeling skin syndrome type B
Concept	2636		Microcephalic osteodysplastic primordial dwarfism types I and III
Concept	263662		Familial multiple meningioma
Concept	263665		NK-cell enteropathy
Concept	2637		Microcephalic osteodysplastic primordial dwarfism type II
Concept	2639		Fibular aplasia-complex brachydactyly syndrome
Concept	264200		14q22q23 microdeletion syndrome
Concept	2643		Microcephalic primordial dwarfism, Toriello type
Concept	264450		Trisomy 8p
Concept	2645		Osteoglosphonic dysplasia
Concept	264580		Glycogen storage disease due to liver phosphorylase kinase deficiency
Concept	2646		Version: Parastremmatic dwarfism		Removed this Concept
Concept	264675		Hereditary pulmonary alveolar proteinosis
Concept	264688		Congenital chylothorax
Concept	264691		Isolated pulmonary capillaritis
Concept	264978		Drug or radiation exposure-related interstitial lung disease
Concept	2653		Version: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome		Removed this Concept
Concept	2655		Thanatophoric dysplasia
Concept	2658		Lenz-Majewski hyperostotic dwarfism
Concept	266		Autosomal dominant limb-girdle muscular dystrophy type 1A
Concept	2662		Keipert syndrome
Concept	2663		Nathalie syndrome
Concept	2665		Congenital mesoblastic nephroma
Concept	2666		Adult familial nephronophthisis-spastic quadriparesia syndrome
Concept	2668		Nephropathy-deafness-hyperparathyroidism syndrome
Concept	2669		Nephrosis-deafness-urinary tract-digital malformations syndrome
Concept	267		Calpain-3-related limb-girdle muscular dystrophy R1
Concept	2670		Pierson syndrome
Concept	2671		Neu-Laxova syndrome
Concept	2672		Neuhauser-Eichner-Opitz syndrome
Concept	2673		Neurofaciodigitorenal syndrome
Concept	2674		Cyprus facial-neuromusculoskeletal syndrome
Concept	2678		Familial isolated café-au-lait macules
Concept	26790		Pseudomyxoma peritonei
Concept	26791		Multiple acyl-CoA dehydrogenase deficiency
Concept	26792		Short chain acyl-CoA dehydrogenase deficiency
Concept	26793		Very long chain acyl-CoA dehydrogenase deficiency
Concept	268		Dysferlin-related limb-girdle muscular dystrophy R2
Concept	2680		Hypomyelination neuropathy-arthrogryposis syndrome
Concept	268114		RAS-associated autoimmune leukoproliferative disease
Concept	268129		Spheroid body myopathy
Concept	268139		Intraocular medulloepithelioma
Concept	268145		Classic maple syrup urine disease
Concept	268162		Intermediate maple syrup urine disease
Concept	268173		Intermittent maple syrup urine disease
Concept	268184		Thiamine-responsive maple syrup urine disease
Concept	268249		Mycophenolate mofetil embryopathy
Concept	268261		DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Concept	268316		Complication in hemodialysis
Concept	268322		Hereditary thrombocytopenia with normal platelets
Concept	268363		Open iniencephaly
Concept	268366		Closed iniencephaly
Concept	2686		Cyclic neutropenia
Concept	2688		Adult idiopathic neutropenia
Concept	268810		Isolated posterior meningocele
Concept	268820		Cranial meningocele
Concept	268823		Occipital encephalocele
Concept	268826		Parietal encephalocele
Concept	268829		Basal encephalocele
Concept	268861		Primary tethered cord syndrome
Concept	268865		Neurenteric cyst
Concept	268868		Isolated amyelia
Concept	268882		Arnold-Chiari malformation type I
Concept	268920		Isolated megalencephaly
Concept	268936		Isolated arhinencephaly
Concept	268940		Bilateral polymicrogyria
Concept	268943		Unilateral polymicrogyria
Concept	268947		Unilateral focal polymicrogyria
Concept	268961		Isolated focal cortical dysplasia type I
Concept	268973		Isolated focal cortical dysplasia type Ia
Concept	268980		Isolated focal cortical dysplasia type Ib
Concept	268987		Isolated focal cortical dysplasia type Ic
Concept	268994		Isolated focal cortical dysplasia type II
Concept	269		Facioscapulohumeral dystrophy
Concept	2690		Neutropenia-monocytopenia-deafness syndrome
Concept	269001		Isolated focal cortical dysplasia type IIa
Concept	269008		Isolated focal cortical dysplasia type IIb
Concept	269197		Glioependymal/ependymal cyst
Concept	269203		Isolated cerebellar vermis agenesis
Concept	269206		Isolated total cerebellar vermis agenesis
Concept	269209		Isolated partial cerebellar vermis agenesis
Concept	269212		Isolated Dandy-Walker malformation with hydrocephalus
Concept	269215		Isolated Dandy-Walker malformation without hydrocephalus
Concept	269218		Isolated unilateral hemispheric cerebellar hypoplasia
Concept	269221		Isolated bilateral hemispheric cerebellar hypoplasia
Concept	269229		Pontine tegmental cap dysplasia
Concept	2695		Bifid nose
Concept	269505		Congenital communicating hydrocephalus
Concept	269510		Congenital non-communicating hydrocephalus
Concept	2697		Arthrogryposis-renal dysfunction-cholestasis syndrome
Concept	2698		Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Concept	2699		Median nodule of the upper lip
Concept	27		Vitamin B12-unresponsive methylmalonic acidemia
Concept	270		Oculopharyngeal muscular dystrophy
Concept	2700		Noma
Concept	2701		Noonan syndrome-like disorder with loose anagen hair
Concept	2703		Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Concept	2704		Ochoa syndrome	Urofacial syndrome
Concept	2707		Oculocerebrofacial syndrome, Kaufman type
Concept	2709		Oculodental syndrome, Rutherfurd type
Concept	2710		Oculodentodigital dysplasia
Concept	2712		Oculofaciocardiodental syndrome
Concept	2713		Oculoosteocutaneous syndrome
Concept	2714		Oculo-palato-cerebral syndrome
Concept	2715		Severe oculo-renal-cerebellar syndrome
Concept	2717		Oculotrichoanal syndrome
Concept	2718		Oculotrichodysplasia
Concept	2719		Oculocerebral hypopigmentation syndrome, Cross type
Concept	272		Congenital muscular dystrophy, Fukuyama type
Concept	2720		Oculocerebral hypopigmentation syndrome, Preus type
Concept	2721		Odonto-onycho-dermal dysplasia
Concept	2722		Odonto-onycho dysplasia-alopecia syndrome
Concept	2723		Odontotrichomelic syndrome
Concept	2724		Odontomatosis-aortae esophagus stenosis syndrome
Concept	2728		Blepharophimosis-intellectual disability syndrome, Ohdo type
Concept	2729		Version: Okamoto syndrome		Removed this Concept
Concept	273		Steinert myotonic dystrophy
Concept	2730		Postaxial tetramelic oligodactyly
Concept	2732		Olivopontocerebellar atrophy-deafness syndrome
Concept	2733		Omodysplasia
Concept	2736		Lethal omphalocele-cleft palate syndrome
Concept	2737		Onchocerciasis
Concept	274		Bernard-Soulier syndrome
Concept	2741		Ophthalmomandibulomelic dysplasia
Concept	2743		Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Concept	2744		Horizontal gaze palsy with progressive scoliosis
Concept	2745		Opitz GBBB syndrome
Concept	2746		Opsismodysplasia
Concept	275		Severe combined immunodeficiency due to DCLRE1C deficiency
Concept	2750		Orofaciodigital syndrome type 1
Concept	2751		Orofaciodigital syndrome type 2
Concept	2752		Version: Orofaciodigital syndrome type 3		Removed this Concept
Concept	2753		Orofaciodigital syndrome type 4
Concept	2754		Orofaciodigital syndrome type 6
Concept	2755		Orofaciodigital syndrome type 8
Concept	275517		Autoimmune lymphoproliferative syndrome with recurrent viral infections	Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
Concept	275523		Dianzani autoimmune lymphoproliferative disease
Concept	275543		L1 syndrome
Concept	275555		Preeclampsia
Concept	2756		Version: Orofaciodigital syndrome type 10		Removed this Concept
Concept	275761		Lysosomal acid lipase deficiency
Concept	275766		Idiopathic pulmonary arterial hypertension
Concept	275777		Heritable pulmonary arterial hypertension
Concept	275864		Behavioral variant of frontotemporal dementia
Concept	275872		Frontotemporal dementia with motor neuron disease
Concept	2759		Imperforate oropharynx-costovertebral anomalies syndrome
Concept	275944		Hemolytic disease of the newborn with Kell alloimmunization
Concept	276		T-B+ severe combined immunodeficiency due to gamma chain deficiency
Concept	2760		OSLAM syndrome
Concept	276066		Bile acid CoA ligase deficiency and defective amidation
Concept	276145		Malignant epithelial tumor of salivary glands
Concept	276148		Benign epithelial tumor of salivary glands
Concept	276152		Multiple endocrine neoplasia type 4
Concept	276174		Idiopathic recurrent stupor
Concept	276183		Spinocerebellar ataxia type 32
Concept	276193		Spinocerebellar ataxia type 35
Concept	276198		Spinocerebellar ataxia type 36
Concept	2762		Progressive osseous heteroplasia
Concept	276212		Mucopolysaccharidosis type 6, rapidly progressing
Concept	276223		Mucopolysaccharidosis type 6, slowly progressing
Concept	276234		Non-syndromic male infertility due to sperm motility disorder
Concept	276238		Machado-Joseph disease type 1
Concept	276241		Machado-Joseph disease type 2
Concept	276244		Machado-Joseph disease type 3
Concept	276280		Hemihyperplasia-multiple lipomatosis syndrome
Concept	2763		Osteocraniostenosis
Concept	276399		Familial multinodular goiter
Concept	2764		Osteochondritis dissecans
Concept	276405		Hyperbiliverdinemia
Concept	276413		10q22.3q23.3 microdeletion syndrome
Concept	276422		10q22.3q23.3 microduplication syndrome
Concept	276429		Hypnic headache
Concept	276432		Ogden syndrome
Concept	276435		Lower motor neuron syndrome with late-adult onset
Concept	276556		Hyperinsulinism due to UCP2 deficiency
Concept	276575		Autosomal dominant hyperinsulinism due to SUR1 deficiency
Concept	276580		Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Concept	276598		Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Concept	276603		Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Concept	276608		Non-insulinoma pancreatogenous hypoglycemia syndrome
Concept	276621		Sporadic pheochromocytoma/secreting paraganglioma
Concept	276630		Symptomatic form of Coffin-Lowry syndrome in female carriers
Concept	2767		Carpotarsal osteochondromatosis
Concept	2768		Blount disease
Concept	2769		Familial osteodysplasia, Anderson type
Concept	277		Severe combined immunodeficiency due to adenosine deaminase deficiency
Concept	2770		Nasu-Hakola disease
Concept	2771		Bruck syndrome
Concept	2772		Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Concept	2773		Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Concept	2774		Multicentric carpo-tarsal osteolysis with or without nephropathy
Concept	2776		Autosomal recessive distal osteolysis syndrome
Concept	2777		Osteomesopyknosis
Concept	2779		Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Concept	2780		Osteopathia striata-cranial sclerosis syndrome
Concept	2783		Autosomal dominant osteopetrosis type 1
Concept	2785		Osteopetrosis with renal tubular acidosis
Concept	2786		Osteoporosis-oculocutaneous hypopigmentation syndrome
Concept	2787		Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Concept	2788		Osteoporosis-pseudoglioma syndrome
Concept	2789		Lateral meningocele syndrome
Concept	2790		Endosteal hyperostosis, Worth type
Concept	2791		Otodental syndrome
Concept	2792		Otofaciocervical syndrome
Concept	2793		Otoonychoperoneal syndrome
Concept	2795		Fowler urethral sphincter dysfunction syndrome
Concept	2796		Pachydermoperiostosis
Concept	2798		Pachygyria-intellectual disability-epilepsy syndrome
Concept	279882		Spasmus nutans
Concept	279888		Acute endophthalmitis
Concept	279891		Chronic endophthalmitis
Concept	279894		Toxic maculopathy due to antimalarial drugs
Concept	279897		Primary oculocerebral lymphoma
Concept	279904		Primary intraocular lymphoma
Concept	279914		Intermediate uveitis
Concept	279919		Infectious posterior uveitis
Concept	279922		Infectious anterior uveitis
Concept	279925		Infectious panuveitis
Concept	279928		Paraneoplastic uveitis
Concept	279934		Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Concept	279943		Hereditary neutrophilia
Concept	279947		Postorgasmic illness syndrome
Concept	28		Vitamin B12-responsive methylmalonic acidemia
Concept	280		Wolf-Hirschhorn syndrome
Concept	2800		Extramammary Paget disease
Concept	280062		Calciphylaxis
Concept	280065		Calciphylaxis cutis
Concept	280068		Visceral calciphylaxis
Concept	280071		ALG11-CDG
Concept	2801		Juvenile Paget disease
Concept	280133		Complement component 3 deficiency
Concept	280142		Severe combined immunodeficiency due to LCK deficiency
Concept	280183		Methylmalonic aciduria due to transcobalamin receptor defect
Concept	280195		Septopreoptic holoprosencephaly
Concept	2802		X-linked sideroblastic anemia and spinocerebellar ataxia
Concept	280200		Microform holoprosencephaly
Concept	280205		Laryngotracheoesophageal cleft type 0
Concept	280210		Pelizaeus-Merzbacher disease, connatal form
Concept	280219		Pelizaeus-Merzbacher disease, classic form
Concept	280224		Pelizaeus-Merzbacher disease, transitional form
Concept	280229		Pelizaeus-Merzbacher disease in female carriers
Concept	280234		Null syndrome
Concept	280270		Pelizaeus-Merzbacher-like disease
Concept	280282		Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Concept	280288		Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Concept	280293		Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Concept	280302		Autoimmune pancreatitis type 1
Concept	280315		Autoimmune pancreatitis type 2
Concept	280325		Distal deletion 12p
Concept	280333		Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Concept	280356		PLIN1-related familial partial lipodystrophy
Concept	280365		Autosomal semi-dominant severe lipodystrophic laminopathy
Concept	280379		Erythropoietic uroporphyria associated with myeloid malignancy
Concept	280384		Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Concept	280397		Familial Alzheimer-like prion disease
Concept	2804		W syndrome
Concept	280403		Familial omphalocele syndrome with facial dysmorphism
Concept	280406		Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Concept	2805		Partial pancreatic agenesis
Concept	280553		Fatal infantile hypertonic myofibrillar myopathy
Concept	280558		Warsaw breakage syndrome
Concept	280576		Nestor-Guillermo progeria syndrome
Concept	280586		Chondrodysplasia with joint dislocations, gPAPP type
Concept	280598		Hereditary sensorimotor neuropathy with hyperelastic skin
Concept	2806		Subacute sclerosing leukoencephalitis
Concept	280615		Hemoglobinopathy Toms River
Concept	280620		Progressive myoclonic epilepsy type 6
Concept	280628		Familial progressive hyper- and hypopigmentation
Concept	280633		Multiple congenital anomalies-hypotonia-seizures syndrome
Concept	280640		Occipital pachygyria and polymicrogyria
Concept	280654		Autosomal recessive nail dysplasia
Concept	280671		Megaconial congenital muscular dystrophy
Concept	280679		Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Concept	2807		Papilloma of choroid plexus
Concept	280763		Severe intellectual disability and progressive spastic paraplegia
Concept	280774		Generalized essential telangiectasia
Concept	280779		Cutaneous collagenous vasculopathy
Concept	280785		Bullous diffuse cutaneous mastocytosis
Concept	280794		Pseudoxanthomatous diffuse cutaneous mastocytosis
Concept	2808		Laryngeal abductor paralysis
Concept	280802		Intralobar congenital pulmonary sequestration
Concept	280811		Extralobar congenital pulmonary sequestration
Concept	280821		Communicating congenital bronchopulmonary-foregut malformation
Concept	280827		Congenital pulmonary airway malformation type 0
Concept	280832		Congenital pulmonary airway malformation type 1
Concept	280840		Congenital pulmonary airway malformation type 2
Concept	280847		Congenital pulmonary airway malformation type 3
Concept	280854		Congenital pulmonary airway malformation type 4
Concept	2809		Familial recurrent peripheral facial palsy
Concept	280917		Idiopathic posterior uveitis
Concept	280921		Idiopathic panuveitis
Concept	281		Monosomy 5p
Concept	281090		Syndromic recessive X-linked ichthyosis
Concept	281122		Self-improving collodion baby
Concept	281127		Acral self-healing collodion baby
Concept	281139		Annular epidermolytic ichthyosis
Concept	281190		Congenital reticular ichthyosiform erythroderma
Concept	2812		Parana hard skin syndrome
Concept	281201		Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Concept	2815		Spastic paraparesis-deafness syndrome
Concept	2818		Spastic paraplegia-glaucoma-intellectual disability syndrome
Concept	2819		Spastic paraplegia-facial-cutaneous lesions syndrome
Concept	2820		Spastic paraplegia-nephritis-deafness syndrome
Concept	2821		Spastic paraplegia-neuropathy-poikiloderma syndrome
Concept	282166		Inherited Creutzfeldt-Jakob disease
Concept	2822		Autosomal recessive spastic paraplegia type 11
Concept	2824		Paraplegia-intellectual disability-hyperkeratosis syndrome
Concept	2825		PARC syndrome
Concept	2826		Spastic paraplegia-precocious puberty syndrome
Concept	2828		Young-onset Parkinson disease
Concept	283		Demodicidosis
Concept	2831		Rhizomelic dysplasia, Patterson-Lowry type
Concept	2832		Short tarsus-absence of lower eyelashes syndrome
Concept	2833		Stiff skin syndrome
Concept	2834		Wrinkly skin syndrome
Concept	2835		Pectus excavatum-macrocephaly-dysplastic nails syndrome
Concept	2836		PEHO syndrome
Concept	28378		Tyrosinemia type 2
Concept	2838		Renal caliceal diverticuli-deafness syndrome
Concept	2839		Pelvis-shoulder dysplasia
Concept	284		Alveolar echinococcosis
Concept	2840		Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Concept	2841		Familial benign chronic pemphigus	Hailey-Hailey disease
Concept	284139		Larsen-like syndrome, B3GAT3 type
Concept	284149		Craniosynostosis-dental anomalies
Concept	284160		8q21.11 microdeletion syndrome
Concept	284169		Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Concept	284180		Xp22.13p22.2 duplication syndrome
Concept	2842		Penoscrotal transposition
Concept	284227		TEMPI syndrome
Concept	284232		Autosomal dominant Charcot-Marie-Tooth disease type 2O
Concept	284247		Familial retinal arterial macroaneurysm
Concept	284271		Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Concept	284282		Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Concept	284289		Adult-onset autosomal recessive cerebellar ataxia
Concept	2843		Pentosuria
Concept	284324		Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Concept	284332		Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Concept	284339		Pontocerebellar hypoplasia type 7
Concept	284343		DICER1 tumor-predisposition syndrome
Concept	284362		Fetal lung interstitial tumor
Concept	284388		Reversible cerebral vasoconstriction syndrome
Concept	284395		Well-differentiated fetal adenocarcinoma of the lung
Concept	284400		Small cell carcinoma of the bladder
Concept	284411		Glycerol kinase deficiency, juvenile form
Concept	284414		Glycerol kinase deficiency, adult form
Concept	284417		Phosphoserine aminotransferase deficiency, infantile/juvenile form
Concept	284426		Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Concept	284435		Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Concept	284448		CLIPPERS
Concept	284454		Acute zonal occult outer retinopathy
Concept	284460		Acute annular outer retinopathy
Concept	2847		Pericardial and diaphragmatic defect
Concept	2848		Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Concept	2849		Perlman syndrome
Concept	284963		Marfan syndrome type 1
Concept	284973		Marfan syndrome type 2
Concept	284979		Neonatal Marfan syndrome
Concept	284984		Aneurysm-osteoarthritis syndrome
Concept	285		Hypermobile Ehlers-Danlos syndrome
Concept	2850		Alopecia-intellectual disability syndrome
Concept	2854		Fuhrmann syndrome
Concept	2855		Perrault syndrome
Concept	2856		Persistent Müllerian duct syndrome
Concept	286		Vascular Ehlers-Danlos syndrome
Concept	2863		Short stature-wormian bones-dextrocardia syndrome
Concept	2865		Short stature-webbed neck-heart disease syndrome
Concept	2866		Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Concept	2867		Short stature, Brussels type
Concept	2868		Short stature-valvular heart disease-characteristic facies syndrome
Concept	2869		Peutz-Jeghers syndrome
Concept	287		Classical Ehlers-Danlos syndrome
Concept	2871		Pfeiffer-Palm-Teller syndrome
Concept	2872		Cardiocranial syndrome, Pfeiffer type
Concept	2874		Phakomatosis pigmentokeratotica
Concept	2875		Phakomatosis pigmentovascularis
Concept	2876		PHAVER syndrome
Concept	2878		Version: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome		Removed this Concept
Concept	2879		Phocomelia, Schinzel type
Concept	288		Hereditary elliptocytosis
Concept	2880		Phosphoenolpyruvate carboxykinase deficiency
Concept	2881		Cutaneous photosensitivity-lethal colitis syndrome
Concept	2882		Sitosterolemia
Concept	2884		Piebaldism
Concept	2885		Piebald trait-neurologic defects syndrome
Concept	2886		TARP syndrome
Concept	2888		Pierre Robin syndrome-faciodigital anomaly syndrome
Concept	2889		Pili torti
Concept	289		Ellis Van Creveld syndrome
Concept	2890		Pili torti-onychodysplasia syndrome
Concept	2891		Pili torti-developmental delay-neurological abnormalities syndrome
Concept	289157		Hypocalcemic vitamin D-dependent rickets
Concept	289176		Autosomal recessive hypophosphatemic rickets
Concept	2892		Pilodental dysplasia-refractive errors syndrome
Concept	289266		Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Concept	289290		Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Concept	289307		Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Concept	289326		Tropical spastic paraparesis
Concept	289347		Infective dermatitis associated with HTLV-1
Concept	289356		Primary non-gestational choriocarcinoma of ovary
Concept	289362		Non-central nervous system-localized embryonal carcinoma
Concept	289365		Familial vesicoureteral reflux
Concept	289377		Early-onset myopathy with fatal cardiomyopathy
Concept	289380		Myosclerosis
Concept	289385		Malignancy diagnosed during pregnancy
Concept	289390		Primary Sjögren syndrome
Concept	289465		Isolated congenital adermatoglyphia
Concept	289478		PASH syndrome
Concept	289483		Intellectual disability-alacrima-achalasia syndrome
Concept	289494		4H leukodystrophy
Concept	289499		Congenital cataract microcornea with corneal opacity
Concept	289504		Combined malonic and methylmalonic acidemia
Concept	289513		12q15q21.1 microdeletion syndrome
Concept	289522		Microtriplication 11q24.1
Concept	289539		BAP1-related tumor predisposition syndrome
Concept	289548		Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Concept	289553		Dysmorphism-conductive hearing loss-heart defect syndrome
Concept	289560		Mitochondrial membrane protein-associated neurodegeneration
Concept	289586		Exfoliative ichthyosis
Concept	289596		Juvenile nasopharyngeal angiofibroma
Concept	2896		Pitt-Hopkins syndrome
Concept	289601		Hereditary arterial and articular multiple calcification syndrome
Concept	289661		Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	Epstein-Barr virus-positive diffuse large B-cell lymphoma
Concept	289666		Plasmablastic lymphoma
Concept	289682		Lymphoepithelial-like carcinoma
Concept	289685		Myopericytoma
Concept	2897		Pityriasis rubra pilaris
Concept	2898		X-linked intellectual disability-plagiocephaly syndrome
Concept	289846		Glutathione synthetase deficiency with 5-oxoprolinuria
Concept	289849		Glutathione synthetase deficiency without 5-oxoprolinuria
Concept	289857		Neonatal glycine encephalopathy
Concept	289860		Infantile glycine encephalopathy
Concept	289863		Atypical glycine encephalopathy
Concept	289877		Transient hyperammonemia of the newborn
Concept	289891		Hypermethioninemia due to glycine N-methyltransferase deficiency
Concept	2899		Brachyolmia-amelogenesis imperfecta syndrome
Concept	289916		Vitamin B12-unresponsive methylmalonic acidemia type mut0
Concept	29		Mevalonic aciduria
Concept	290		Congenital rubella syndrome
Concept	2900		Leri pleonosteosis
Concept	2901		Neuralgic amyotrophy
Concept	2902		Idiopathic chronic eosinophilic pneumonia
Concept	2903		Familial spontaneous pneumothorax
Concept	2905		POEMS syndrome
Concept	2907		Hereditary acrokeratotic poikiloderma
Concept	29072		Hereditary pheochromocytoma-paraganglioma
Concept	29073		Multiple myeloma
Concept	2908		Kindler epidermolysis bullosa
Concept	2909		Rothmund-Thomson syndrome
Concept	291		Congenital varicella syndrome
Concept	2911		Poland syndrome
Concept	2912		Poliomyelitis
Concept	2916		Postaxial polydactyly-dental and vertebral anomalies syndrome
Concept	2917		Polydactyly-myopia syndrome
Concept	2919		Orofaciodigital syndrome type 5
Concept	292		Congenital enterovirus infection
Concept	2920		Oliver syndrome
Concept	29207		Reactive arthritis
Concept	2921		Preaxial polydactyly-colobomata-intellectual disability syndrome
Concept	2924		Isolated polycystic liver disease
Concept	2926		Digital extensor muscle aplasia-polyneuropathy
Concept	2928		Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Concept	2929		Juvenile polyposis syndrome
Concept	293		Congenital herpes simplex virus infection
Concept	2930		Cronkhite-Canada syndrome
Concept	293144		Familial clubfoot due to 5q31 microdeletion
Concept	293150		Familial clubfoot due to PITX1 point mutation
Concept	293165		Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Concept	293168		Infantile-onset ascending hereditary spastic paralysis
Concept	293173		Acute generalized exanthematous pustulosis
Concept	293181		Malignant migrating focal seizures of infancy
Concept	293199		Pleomorphic rhabdomyosarcoma
Concept	2932		Chronic inflammatory demyelinating polyneuropathy
Concept	293202		Epithelioid sarcoma
Concept	293208		Celiac artery compression syndrome
Concept	293284		Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Concept	293375		Grayson-Wilbrandt corneal dystrophy
Concept	293381		Epithelial recurrent erosion dystrophy
Concept	2934		Polysyndactyly-cardiac malformation syndrome
Concept	293462		Pre-Descemet corneal dystrophy
Concept	2935		Crossed polysyndactyly
Concept	293603		Congenital hereditary endothelial dystrophy type II
Concept	293621		X-linked endothelial corneal dystrophy
Concept	293633		PYCR1-related De Barsy syndrome
Concept	293707		Blepharophimosis-intellectual disability syndrome, MKB type
Concept	293725		Blepharophimosis-intellectual disability syndrome, Verloes type
Concept	293807		Ketamine-induced biliary dilatation
Concept	293812		Fixed drug eruption
Concept	293822		MITF-related melanoma and renal cell carcinoma predisposition syndrome
Concept	293825		Congenital dyserythropoietic anemia type IV
Concept	293843		3MC syndrome
Concept	293864		Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Concept	293888		Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Concept	293899		Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Concept	293910		Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Concept	293925		Lethal occipital encephalocele-skeletal dysplasia syndrome
Concept	293936		EDICT syndrome
Concept	293939		Distal Xq28 microduplication syndrome
Concept	293948		1p21.3 microdeletion syndrome
Concept	293955		Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Concept	293958		Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Concept	293964		Hypoinsulinemic hypoglycemia and body hemihypertrophy
Concept	293967		Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Concept	293978		Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Concept	293987		Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Concept	294		Fetal cytomegalovirus syndrome
Concept	2940		Porencephaly
Concept	294016		Microcephaly-capillary malformation syndrome
Concept	294023		Neonatal inflammatory skin and bowel disease
Concept	294026		Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Concept	2941		Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Concept	2942		Postpoliomyelitis syndrome
Concept	294415		Renal-hepatic-pancreatic dysplasia
Concept	294422		Chronic intestinal failure
Concept	2946		Brachydactyly-long thumb syndrome
Concept	2947		Triphalangeal thumbs-brachyectrodactyly syndrome
Concept	294967		Amelia of upper limb	Isolated amelia of upper limb
Concept	294969		Amelia of lower limb	Isolated amelia of lower limb
Concept	294971		Tetra-amelia	Isolated tetra-amelia
Concept	294973		Humeral agenesis/hypoplasia	Isolated humeral agenesis/hypoplasia
Concept	294975		Congenital absence of upper arm and forearm with hand present	Isolated absence of upper arm and forearm with hand present
Concept	294977		Congenital absence of thigh and lower leg with foot present	Isolated absence of thigh and lower leg with foot present
Concept	294979		Congenital absence of both forearm and hand	Isolated absence of both forearm and hand
Concept	294981		Congenital absence of both lower leg and foot	Isolated absence of both lower leg and foot
Concept	294983		Acheiria	Isolated acheiria
Concept	294986		Apodia	Isolated apodia
Concept	294988		Congenital hypoplasia of thumb	Isolated hypoplasia of thumb
Concept	295		Fetal parvovirus syndrome
Concept	295000		Constriction rings syndrome	Amniotic band syndrome
Concept	295002		Hyperphalangy	Isolated hyperphalangy
Concept	295004		Central polydactyly
Concept	295012		Syndactyly type 6
Concept	295014		Familial isolated clinodactyly of fingers
Concept	295016		Camptodactyly of fingers
Concept	295018		Congenital pseudoarthrosis of the tibia
Concept	295020		Congenital pseudoarthrosis of the femur
Concept	295022		Congenital pseudoarthrosis of the fibula
Concept	295024		Congenital pseudoarthrosis of the radius
Concept	295026		Congenital pseudoarthrosis of the ulna
Concept	295028		Tibio-fibular synostosis	Isolated tibio-fibular synostosis
Concept	295030		True congenital shoulder dislocation
Concept	295032		Isolated congenital radial head dislocation
Concept	295034		Congenital knee dislocation
Concept	295036		Congenital patella dislocation
Concept	295044		Macrodactyly of fingers
Concept	295047		Macrodactyly of toes
Concept	295049		Upper limb hypertrophy
Concept	295051		Lower limb hypertrophy
Concept	2951		Absent thumb-short stature-immunodeficiency syndrome
Concept	295187		Zygodactyly type 1
Concept	295189		Zygodactyly type 2
Concept	295191		Zygodactyly type 3
Concept	295193		Zygodactyly type 4
Concept	295195		Synpolydactyly type 1
Concept	295197		Synpolydactyly type 2
Concept	295199		Synpolydactyly type 3
Concept	2952		Adducted thumbs-arthrogryposis syndrome, Christian type
Concept	295201		Congenital vertical talus, unilateral
Concept	295203		Congenital vertical talus, bilateral
Concept	295213		Version: Humero-ulnar synostosis, unilateral		Removed this Concept
Concept	295215		Version: Humero-ulnar synostosis, bilateral		Removed this Concept
Concept	295217		Version: Radio-ulnar synostosis, unilateral		Removed this Concept
Concept	295219		Version: Radio-ulnar synostosis, bilateral		Removed this Concept
Concept	295225		Congenital elbow dislocation, unilateral
Concept	295227		Congenital elbow dislocation, bilateral
Concept	295229		Congenital genu recurvatum
Concept	295232		Congenital genu flexum
Concept	295239		Macrodactyly of fingers, unilateral
Concept	295241		Macrodactyly of fingers, bilateral
Concept	295243		Macrodactyly of toes, unilateral
Concept	295245		Macrodactyly of toes, bilateral
Concept	2953		Musculocontractural Ehlers-Danlos syndrome
Concept	2956		Acrodysplasia scoliosis
Concept	2957		Guttmacher syndrome
Concept	2958		X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Concept	2959		Progeria-short stature-pigmented nevi syndrome
Concept	296		Ollier disease
Concept	2962		De Barsy syndrome
Concept	2963		Progeroid syndrome, Petty type
Concept	2964		Autosomal dominant prognathism
Concept	2965		Prolactinoma
Concept	2966		Properdin deficiency
Concept	2967		Transcobalamin I deficiency
Concept	2968		Leukocyte adhesion deficiency
Concept	2969		Proteus-like syndrome
Concept	297		Tick-borne encephalitis
Concept	2970		Prune belly syndrome
Concept	2971		Peroxisomal acyl-CoA oxidase deficiency
Concept	2972		Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Concept	2973		46,XX difference of sex development-anorectal anomalies syndrome
Concept	2975		46,XX difference of sex development-skeletal anomalies syndrome
Concept	2976		Pseudoleprechaunism syndrome, Patterson type
Concept	2978		Chronic intestinal pseudoobstruction
Concept	298		Mitochondrial neurogastrointestinal encephalomyopathy
Concept	2980		Acrootoocular syndrome
Concept	29822		Spontaneous periodic hypothermia
Concept	2983		Difference of sex development-intellectual disability syndrome
Concept	2985		Pseudoprogeria syndrome
Concept	2987		Antecubital pterygium syndrome
Concept	2988		Pterygium colli-intellectual disability-digital anomalies syndrome
Concept	2989		Familial pterygium of the conjunctiva
Concept	2990		Autosomal recessive multiple pterygium syndrome
Concept	2994		Short stature-craniofacial anomalies-genital hypoplasia syndrome
Concept	2995		Baraitser-Winter cerebrofrontofacial syndrome
Concept	2997		Ptosis-vocal cord paralysis syndrome
Concept	2999		Ptosis-strabismus-ectopic pupils syndrome
Concept	30		Hereditary orotic aciduria
Concept	300		Bifunctional enzyme deficiency
Concept	3000		Familial peripheral male-limited precocious puberty
Concept	300179		Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Concept	3002		Immune thrombocytopenia
Concept	300284		Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Concept	300293		Transient infantile hypertriglyceridemia and hepatosteatosis
Concept	300298		Severe congenital hypochromic anemia with ringed sideroblasts
Concept	3003		Pyknoachondrogenesis
Concept	300305		11p15.4 microduplication syndrome
Concept	300313		Congenital cataract-hearing loss-severe developmental delay syndrome
Concept	300319		Charcot-Marie-Tooth disease type 2P
Concept	300324		Persistent polyclonal B-cell lymphocytosis
Concept	300333		Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Concept	300345		Autosomal systemic lupus erythematosus
Concept	300359		PLCG2-associated antibody deficiency and immune dysregulation
Concept	300373		X-linked acrogigantism
Concept	300382		Progeroid and marfanoid aspect-lipodystrophy syndrome
Concept	300385		Pituitary carcinoma
Concept	3004		Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Concept	300493		Sagliker syndrome
Concept	300496		Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Concept	3005		Pyle disease
Concept	300501		Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Concept	300504		Onychocytic matricoma
Concept	300512		Onychomatricoma
Concept	300525		Pseudohypoaldosteronism type 2D
Concept	300530		Pseudohypoaldosteronism type 2E
Concept	300536		DDOST-CDG
Concept	300547		Autosomal recessive infantile hypercalcemia
Concept	300552		Follicular cholangitis and pancreatitis
Concept	300557		Carcinoma of the ampulla of Vater
Concept	300564		Combined pulmonary fibrosis-emphysema syndrome
Concept	300570		Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Concept	300573		Polymicrogyria due to TUBB2B mutation
Concept	300576		Oligodontia-cancer predisposition syndrome
Concept	3006		Pyridoxine-dependent epilepsy
Concept	300605		Juvenile amyotrophic lateral sclerosis
Concept	300751		Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Concept	3008		Pyruvate carboxylase deficiency
Concept	300849		Diffuse large B-cell lymphoma of the central nervous system
Concept	300857		T-cell/histiocyte rich large B cell lymphoma
Concept	300865		Primary cutaneous anaplastic large cell lymphoma
Concept	300869		Splenic diffuse red pulp small B-cell lymphoma
Concept	300878		Hairy cell leukemia variant
Concept	300888		Diffuse large B-cell lymphoma with chronic inflammation
Concept	300895		ALK-positive anaplastic large cell lymphoma
Concept	300903		ALK-negative anaplastic large cell lymphoma
Concept	3010		Qazi-Markouizos syndrome
Concept	3011		Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Concept	3015		Radio-renal syndrome
Concept	3016		Absent radius-anogenital anomalies syndrome
Concept	3018		Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Concept	3019		Ramon syndrome
Concept	302		Epidermodysplasia verruciformis	Inherited epidermodysplasia verruciformis
Concept	3020		Ramsay Hunt syndrome
Concept	3021		RAPADILINO syndrome
Concept	3023		External auditory canal atresia-vertical talus-hypertelorism syndrome
Concept	3026		Radial ray hypoplasia-choanal atresia syndrome
Concept	3027		Caudal regression syndrome
Concept	3032		NPHP3-related Meckel-like syndrome
Concept	3033		Renal tubular dysgenesis
Concept	3034		Delayed membranous cranial ossification
Concept	3035		Growth delay-hydrocephaly-lung hypoplasia syndrome
Concept	3038		Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Concept	30391		Isolated biliary atresia
Concept	3041		Intellectual disability-balding-patella luxation-acromicria syndrome
Concept	3042		Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Concept	3044		Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Concept	3047		Blepharophimosis-intellectual disability syndrome, SBBYS type
Concept	3051		Nicolaides-Baraitser syndrome
Concept	3052		X-linked intellectual disability-seizures-psoriasis syndrome
Concept	3055		X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Concept	3057		Monoamine oxidase A deficiency
Concept	306		Benign familial infantile epilepsy
Concept	3063		X-linked intellectual disability, Snyder type
Concept	306431		Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Concept	306504		Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Concept	306511		Autosomal recessive spastic paraplegia type 48
Concept	306516		Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Concept	306527		Isolated hereditary congenital facial paralysis
Concept	306530		Congenital hereditary facial paralysis-variable hearing loss syndrome
Concept	306542		Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Concept	306547		Porencephaly-microcephaly-bilateral congenital cataract syndrome
Concept	306550		FADD-related immunodeficiency
Concept	306553		Myospherulosis
Concept	306558		Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Concept	306577		Sodium channelopathy-related small fiber neuropathy	Hereditary sodium channelopathy-related small fibers neuropathy
Concept	306617		X-linked complicated spastic paraplegia type 1
Concept	306644		Complication after organ transplantation
Concept	306658		Familial normophosphatemic tumoral calcinosis
Concept	306661		Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Concept	306669		Hemiparkinsonism-hemiatrophy syndrome
Concept	306674		Kufor-Rakeb syndrome
Concept	306682		Manganese poisoning
Concept	306686		Delayed encephalopathy due to carbon monoxide poisoning
Concept	306692		Cyanide-induced parkinsonism-dystonia
Concept	306731		Sydenham chorea
Concept	306734		Primary dystonia, DYT21 type
Concept	306741		Hemidystonia-hemiatrophy syndrome
Concept	306776		Sporadic hyperekplexia
Concept	3068		Intellectual disability-myopathy-short stature-endocrine defect syndrome
Concept	307		Juvenile myoclonic epilepsy
Concept	3071		Costello syndrome
Concept	3074		Intellectual disability-short stature-hypertelorism syndrome
Concept	3077		X-linked intellectual disability-psychosis-macroorchidism syndrome
Concept	307766		Curly hair-acral keratoderma-caries syndrome
Concept	3078		Severe X-linked intellectual disability, Gustavson type
Concept	3079		Intellectual disability, Buenos-Aires type
Concept	307936		Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Concept	308		Progressive myoclonic epilepsy type 1
Concept	3080		Intellectual disability, Wolff type
Concept	308013		Focal acral hyperkeratosis
Concept	3082		Intellectual disability-polydactyly-uncombable hair syndrome
Concept	308380		Methylcobalamin deficiency type cblDv1
Concept	308386		Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Concept	308393		Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Concept	308400		Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Concept	308410		Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Concept	308425		Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Concept	308442		Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Concept	308473		Erythrocyte galactose epimerase deficiency
Concept	308487		Generalized galactose epimerase deficiency
Concept	3085		Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Concept	308552		Glycogen storage disease due to acid maltase deficiency, infantile onset
Concept	3086		Autosomal dominant vitreoretinochoroidopathy
Concept	308621		Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Concept	308638		Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Concept	308655		Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Concept	308670		Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Concept	308684		Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Concept	308698		Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Concept	308712		Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Concept	3088		Revesz syndrome
Concept	309015		Familial lipoprotein lipase deficiency
Concept	309020		Familial apolipoprotein C-II deficiency
Concept	309025		Mevalonate kinase deficiency
Concept	309031		Pancreatic triacylglycerol lipase deficiency
Concept	309108		Pancreatic colipase deficiency
Concept	309111		Combined pancreatic lipase-colipase deficiency
Concept	309147		Hyper-beta-alaninemia
Concept	309155		Sandhoff disease, infantile form
Concept	309162		Sandhoff disease, juvenile form
Concept	309169		Sandhoff disease, adult form
Concept	309178		Tay-Sachs disease, B variant, infantile form	Tay-Sachs disease, infantile form
Concept	309185		Tay-Sachs disease, B variant, juvenile form	Tay-Sachs disease, juvenile form
Concept	309192		Tay-Sachs disease, B variant, adult form	Tay-Sachs disease, adult form
Concept	3092		Fixed subaortic stenosis
Concept	309239		Version: Tay-Sachs disease, B1 variant		Removed this Concept
Concept	30924		Primary hypomagnesemia with secondary hypocalcemia
Concept	309246		GM2 gangliosidosis, AB variant
Concept	30925		Hereditary central diabetes insipidus	Hereditary arginine vasopressin deficiency
Concept	309252		Atypical Gaucher disease due to saposin C deficiency
Concept	309256		Metachromatic leukodystrophy, late infantile form
Concept	309263		Metachromatic leukodystrophy, juvenile form
Concept	309271		Metachromatic leukodystrophy, adult form
Concept	309282		Alpha-mannosidosis, infantile form
Concept	309288		Alpha-mannosidosis, adult form
Concept	309297		Mucopolysaccharidosis type 4A
Concept	3093		Congenital aortic valve stenosis
Concept	309310		Mucopolysaccharidosis type 4B
Concept	309324		Free sialic acid storage disease, infantile form
Concept	309331		Intermediate severe Salla disease
Concept	309334		Salla disease
Concept	3095		Atypical Rett syndrome
Concept	3096		Reye syndrome
Concept	3097		Meacham syndrome
Concept	309789		Rhizomelic chondrodysplasia punctata type 1
Concept	309796		Rhizomelic chondrodysplasia punctata type 2
Concept	3098		Rhizomelic syndrome, Urbach type
Concept	309803		Rhizomelic chondrodysplasia punctata type 3
Concept	309854		Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Concept	3099		Rheumatic fever
Concept	31		Oxoglutaric aciduria
Concept	3101		Richieri Costa-da Silva syndrome
Concept	3102		Richieri Costa-Pereira syndrome
Concept	3103		Roberts syndrome
Concept	3104		Robin sequence-oligodactyly syndrome
Concept	31043		Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Concept	3107		Autosomal dominant Robinow syndrome
Concept	3109		Mayer-Rokitansky-Küster-Hauser syndrome
Concept	3110		Rombo syndrome
Concept	3111		Rotor syndrome
Concept	31112		Dermatofibrosarcoma protuberans
Concept	3115		Roussy-Lévy syndrome
Concept	31150		Tangier disease
Concept	312		Autosomal dominant epidermolytic ichthyosis
Concept	31202		Melioidosis
Concept	31204		Nocardiosis
Concept	31205		Rat-bite fever
Concept	3121		Ruvalcaba syndrome
Concept	3124		Saccharopinuria
Concept	3129		Sarcosinemia
Concept	313		Lamellar ichthyosis
Concept	3130		Satoyoshi syndrome
Concept	3132		Say-Barber-Miller syndrome
Concept	3134		SCARF syndrome
Concept	3137		Alpha-N-acetylgalactosaminidase deficiency
Concept	313772		Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Concept	313781		20p13 microdeletion syndrome
Concept	313795		Jawad syndrome
Concept	3138		Ulnar-mammary syndrome
Concept	313800		Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Concept	313808		Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Concept	313838		Coats plus syndrome
Concept	313846		Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Concept	313850		Infantile cerebellar-retinal degeneration
Concept	313855		FGFR2-related bent bone dysplasia
Concept	313884		12p12.1 microdeletion syndrome
Concept	313892		Developmental and speech delay due to SOX5 deficiency
Concept	313906		Congenital pancreatic cyst
Concept	313920		Epstein-Barr virus-associated gastric carcinoma
Concept	313936		PENS syndrome
Concept	313947		2q23.1 microduplication syndrome
Concept	314		Erythroderma desquamativum
Concept	314002		Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Concept	314017		Idiopathic linear interstitial keratitis
Concept	314022		Gastric adenocarcinoma and proximal polyposis of the stomach
Concept	314029		High bone mass osteogenesis imperfecta
Concept	314034		7p22.1 microduplication syndrome
Concept	314041		Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Concept	314051		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Concept	3143		Autoimmune polyendocrinopathy type 2
Concept	314373		Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Concept	314376		Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Concept	314381		Hereditary sensory and autonomic neuropathy type 6
Concept	314389		Xq12-q13.3 duplication syndrome
Concept	314394		Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Concept	314399		Autosomal dominant aplasia and myelodysplasia
Concept	3144		Schneckenbecken dysplasia
Concept	314404		Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Concept	314419		Ameloblastoma
Concept	314422		Ameloblastic carcinoma
Concept	314432		Spigelian hernia-cryptorchidism syndrome
Concept	314451		Meigs syndrome
Concept	314459		Pseudo-Meigs syndrome
Concept	314466		Atypical Meigs syndrome
Concept	314473		Ovarian fibroma
Concept	314478		Ovarian fibrothecoma
Concept	314485		Young adult-onset distal hereditary motor neuropathy
Concept	3145		Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome	Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
Concept	314555		Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Concept	314566		Primary progressive apraxia of speech
Concept	314572		Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Concept	314575		Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Concept	314585		15q overgrowth syndrome
Concept	314588		Distal triplication 15q
Concept	314597		Chudley-McCullough syndrome
Concept	314603		Autosomal recessive spastic ataxia with leukoencephalopathy
Concept	314613		Growing teratoma syndrome
Concept	314621		Duplication of the pituitary gland
Concept	314629		CLN11 disease
Concept	314632		ATP13A2-related juvenile neuronal ceroid lipofuscinosis	CLN12 disease
Concept	314637		Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Concept	314647		Non-progressive cerebellar ataxia with intellectual disability
Concept	314652		Variant ABeta2M amyloidosis
Concept	314655		Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Concept	314662		Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Concept	314667		TMEM165-CDG
Concept	314679		Cerebrofacioarticular syndrome
Concept	314684		Primary bone lymphoma
Concept	314689		Combined immunodeficiency due to STK4 deficiency
Concept	314697		Acquired porencephaly
Concept	314701		Primary systemic amyloidosis
Concept	314709		Primary localized amyloidosis
Concept	314718		Lethal arteriopathy syndrome due to fibulin-4 deficiency
Concept	314721		Atypical dentin dysplasia due to SMOC2 deficiency
Concept	314769		Somatomammotropinoma
Concept	314777		Familial isolated pituitary adenoma
Concept	314786		Silent pituitary adenoma
Concept	314790		Null pituitary adenoma
Concept	314795		SHOX-related short stature
Concept	3148		Malignant peripheral nerve sheath tumor
Concept	314802		Short stature due to partial GHR deficiency
Concept	314811		Short stature due to GHSR deficiency
Concept	314889		Autosomal dominant proximal renal tubular acidosis
Concept	314911		Severe Canavan disease
Concept	314918		Mild Canavan disease
Concept	314950		Primary hypereosinophilic syndrome
Concept	314962		Secondary hypereosinophilic syndrome
Concept	314970		Lymphocytic hypereosinophilic syndrome
Concept	314978		X-linked non progressive cerebellar ataxia
Concept	314993		Cataract-congenital heart disease-neural tube defect syndrome
Concept	315		Erythrokeratoderma ''en cocardes''
Concept	3151		Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Concept	3152		Sclerosteosis
Concept	315306		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Concept	315311		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Concept	3156		Senior-Loken syndrome
Concept	3157		Septo-optic dysplasia spectrum
Concept	316		Progressive symmetric erythrokeratodermia
Concept	3161		Congenital pulmonary sequestration
Concept	3162		Sézary syndrome
Concept	3163		SHORT syndrome
Concept	3164		Omphalocele syndrome, Shprintzen-Goldberg type
Concept	3165		Eosinophilic fasciitis
Concept	3166		Sialuria
Concept	3167		Siegler-Brewer-Carey syndrome
Concept	3168		Sillence syndrome
Concept	3169		Sirenomelia
Concept	317		Erythrokeratodermia variabilis
Concept	31709		Infantile convulsions and choreoathetosis
Concept	3172		Eyebrow duplication-syndactyly syndrome
Concept	3173		Infantile spasms-broad thumbs syndrome
Concept	317425		Severe combined immunodeficiency due to DNA-PKcs deficiency
Concept	317428		Combined immunodeficiency due to ORAI1 deficiency
Concept	317430		Combined immunodeficiency due to STIM1 deficiency
Concept	317473		Pancytopenia due to IKZF1 mutations
Concept	317476		X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	XMEN
Concept	3175		X-linked spasticity-intellectual disability-epilepsy syndrome
Concept	3176		Spina bifida-hypospadias syndrome
Concept	3177		Spinocerebellar degeneration-corneal dystrophy syndrome
Concept	318		Acute erythroid leukemia
Concept	3180		Spondylocamptodactyly syndrome
Concept	3181		Sprengel deformity
Concept	31824		Colchicine poisoning
Concept	31825		Methanol poisoning
Concept	31826		Ethylene glycol poisoning
Concept	31827		Paraquat poisoning
Concept	31828		Digitalis poisoning
Concept	31837		Pulmonary venoocclusive disease
Concept	3184		Steatocystoma multiplex-natal teeth syndrome
Concept	3186		Holoprosencephaly-radial heart renal anomalies syndrome
Concept	3189		Congenital pulmonary valvar stenosis
Concept	319		Skeletal Ewing sarcoma
Concept	3190		Subpulmonary stenosis
Concept	3191		Subaortic stenosis-short stature syndrome
Concept	319160		Congenital myopathy with internal nuclei and atypical cores
Concept	319171		Distal 17p13.1 microdeletion syndrome
Concept	319182		Wiedemann-Steiner syndrome
Concept	319189		Familial cortical myoclonus
Concept	319192		Diencephalic-mesencephalic junction dysplasia
Concept	319195		Chondroectodermal dysplasia with night blindness
Concept	319199		Autosomal recessive spastic paraplegia type 53
Concept	3192		Supravalvular pulmonary stenosis
Concept	319205		Bilateral massive adrenal hemorrhage
Concept	319213		Lujo hemorrhagic fever
Concept	319218		Ebola hemorrhagic fever
Concept	319223		Argentine hemorrhagic fever
Concept	319229		Bolivian hemorrhagic fever
Concept	319234		Venezuelan hemorrhagic fever
Concept	319239		Brazilian hemorrhagic fever
Concept	319244		Chapare hemorrhagic fever
Concept	319247		Hantavirus pulmonary syndrome
Concept	319251		Rift valley fever
Concept	319254		Kyasanur forest disease
Concept	319266		Omsk hemorrhagic fever
Concept	319276		Clear cell renal carcinoma
Concept	319287		Multilocular cystic renal neoplasm of low malignant potential
Concept	319298		Papillary renal cell carcinoma
Concept	3193		Supravalvular aortic stenosis
Concept	319303		Chromophobe renal cell carcinoma
Concept	319308		MiT family translocation renal cell carcinoma
Concept	319319		Renal medullary carcinoma
Concept	319322		Mucinous tubular and spindle cell renal carcinoma
Concept	319325		Tubulocystic renal cell carcinoma
Concept	319332		Autosomal recessive myogenic arthrogryposis multiplex congenita
Concept	319340		Carney complex-trismus-pseudocamptodactyly syndrome
Concept	3194		Corneodermatoosseous syndrome
Concept	319462		Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Concept	319465		Inherited acute myeloid leukemia
Concept	319480		Acute myeloid leukemia with CEBPA somatic mutations
Concept	319487		Familial papillary or follicular thyroid carcinoma
Concept	319504		Combined oxidative phosphorylation defect type 8
Concept	319509		Combined oxidative phosphorylation defect type 9
Concept	319514		Combined oxidative phosphorylation defect type 13
Concept	319519		Combined oxidative phosphorylation defect type 14
Concept	319524		Combined oxidative phosphorylation defect type 15
Concept	319547		Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Concept	319552		Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Concept	319558		Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Concept	319563		Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Concept	319569		Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Concept	319574		Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Concept	319581		Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Concept	319589		Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Concept	319595		Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Concept	3196		Steroid dehydrogenase deficiency-dental anomalies syndrome
Concept	319600		Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Concept	319605		X-linked mendelian susceptibility to mycobacterial diseases
Concept	319612		X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Concept	319623		X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Concept	319635		Amyloidosis cutis dyschromia
Concept	319640		Retinal macular dystrophy type 2
Concept	319646		PGM1-CDG
Concept	319651		Constitutional megaloblastic anemia with severe neurologic disease
Concept	319667		Primary lymphoma of the conjunctiva
Concept	319671		Alazami syndrome
Concept	319675		Microcephalic primordial dwarfism, Dauber type
Concept	319678		Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Concept	3197		Hereditary hyperekplexia
Concept	3198		Stiff person spectrum disorder
Concept	3199		Stimmler syndrome
Concept	32		Glutathione synthetase deficiency
Concept	320		Apparent mineralocorticoid excess
Concept	3200		Arthrogryposis-ectodermal dysplasia syndrome
Concept	3201		Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Concept	3202		Dehydrated hereditary stomatocytosis
Concept	3203		Overhydrated hereditary stomatocytosis
Concept	320355		Autosomal dominant spastic paraplegia type 41
Concept	320360		MT-ATP6-related mitochondrial spastic paraplegia
Concept	320365		Autosomal dominant spastic paraplegia type 36
Concept	320370		Autosomal recessive spastic paraplegia type 43
Concept	320375		Autosomal recessive spastic paraplegia type 55
Concept	320380		Autosomal recessive spastic paraplegia type 54
Concept	320385		Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Concept	320391		Autosomal recessive spastic paraplegia type 46
Concept	320396		Autosomal recessive spastic paraplegia type 45
Concept	3204		Stormorken-Sjaastad-Langslet syndrome
Concept	320401		Autosomal recessive spastic paraplegia type 44
Concept	320406		Spastic paraplegia-optic atrophy-neuropathy syndrome
Concept	320411		Autosomal recessive spastic paraplegia type 56
Concept	3205		Sturge-Weber syndrome
Concept	3206		Stüve-Wiedemann syndrome
Concept	3207		White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Concept	3208		Isolated succinate-CoQ reductase deficiency
Concept	321		Multiple osteochondromas
Concept	3210		Version: Summitt syndrome		Removed this Concept
Concept	3214		Deaf blind hypopigmentation syndrome, Yemenite type
Concept	3216		Conductive deafness-malformed external ear syndrome
Concept	3217		Deafness-small bowel diverticulosis-neuropathy syndrome
Concept	3218		Deafness-epiphyseal dysplasia-short stature syndrome
Concept	3219		Fountain syndrome
Concept	322		Exstrophy-epispadias complex
Concept	3220		Deafness-enamel hypoplasia-nail defects syndrome
Concept	3222		Phosphoribosylpyrophosphate synthetase superactivity
Concept	3224		Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Concept	3225		Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Concept	3226		Version: Deafness-lymphedema-leukemia syndrome		Removed this Concept
Concept	3230		Deafness-oligodontia syndrome
Concept	3232		Deafness-ear malformation-facial palsy syndrome
Concept	3233		Cochleosaccular degeneration-cataract syndrome
Concept	3235		Progressive deafness with stapes fixation
Concept	3236		Conductive deafness-ptosis-skeletal anomalies syndrome
Concept	3237		Multiple synostoses syndrome
Concept	3238		Cardiospondylocarpofacial syndrome
Concept	3239		Deafness-vitiligo-achalasia syndrome
Concept	324		Fabry disease
Concept	3240		Central nervous system calcification-deafness-tubular acidosis-anemia syndrome	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Concept	3241		Deafness-craniofacial syndrome
Concept	3242		Renpenning syndrome
Concept	324262		Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Concept	324290		Early-onset Lafora body disease
Concept	324294		T-cell immunodeficiency with epidermodysplasia verruciformis
Concept	324299		Multiple paragangliomas associated with polycythemia
Concept	3243		Sweet syndrome
Concept	324307		Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Concept	324313		9p13 microdeletion syndrome
Concept	324321		Sinoatrial node dysfunction and deafness
Concept	324353		Congenital achiasma
Concept	324364		Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Concept	324381		Hereditary inclusion body myopathy type 4
Concept	324410		X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Concept	324416		Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Concept	324422		ALG13-CDG
Concept	324442		Autosomal recessive axonal neuropathy with neuromyotonia
Concept	324525		Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Concept	324530		Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Concept	324535		Combined oxidative phosphorylation defect type 11
Concept	324540		Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Concept	324561		Hypopigmentation-punctate palmoplantar keratoderma syndrome
Concept	324569		Pontocerebellar hypoplasia type 8
Concept	324575		Hyperinsulinism due to HNF1A deficiency
Concept	324581		Benign Samaritan congenital myopathy
Concept	324585		Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Concept	324588		Familial dyskinesia and facial myokymia
Concept	3246		Symphalangism with multiple anomalies of hands and feet
Concept	324601		X-linked cleft palate and ankyloglossia
Concept	324604		Classic multiminicore myopathy
Concept	324611		Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Concept	324625		Chikungunya
Concept	324632		Hendra virus infection
Concept	324636		Autoerythrocyte sensitization syndrome
Concept	324648		Invasive non-typhoidal salmonellosis
Concept	324703		ABetaL34V amyloidosis
Concept	324708		ABeta amyloidosis, Iowa type
Concept	324713		ABeta amyloidosis, Italian type
Concept	324718		ABetaA21G amyloidosis
Concept	324723		ABeta amyloidosis, Arctic type
Concept	324737		SRD5A3-CDG
Concept	3248		Distal symphalangism	Isolated distal symphalangism
Concept	324964		Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Concept	324972		MAGIC syndrome
Concept	324977		Proteasome-associated autoinflammatory syndrome
Concept	325		Congenital factor II deficiency
Concept	3250		Proximal symphalangism
Concept	325124		Testicular agenesis
Concept	3253		Cleft lip/palate-ectodermal dysplasia syndrome
Concept	325345		46,XY ovotesticular difference of sex development
Concept	325448		Leydig cell hypoplasia due to LHB deficiency
Concept	3255		Filippi syndrome
Concept	325524		Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Concept	325529		Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Concept	3258		Cenani-Lenz syndrome
Concept	3259		Syndactyly-polydactyly-ear lobe syndrome
Concept	326		Congenital factor V deficiency
Concept	3260		Idiopathic hypereosinophilic syndrome
Concept	3261		Autoimmune lymphoproliferative syndrome
Concept	3262		Dobrow syndrome
Concept	3263		Syngnathia-cleft palate syndrome
Concept	3265		Humero-radial synostosis	Isolated humero-radial synostosis
Concept	3266		Humero-radio-ulnar synostosis	Isolated humero-radio-ulnar synostosis
Concept	3268		Radioulnar synostosis-microcephaly-scoliosis syndrome
Concept	3269		Congenital radioulnar synostosis	Isolated radio-ulnar synostosis
Concept	327		Congenital factor VII deficiency
Concept	3270		Radioulnar synostosis-developmental delay-hypotonia syndrome
Concept	3273		Synovial sarcoma
Concept	3275		Spondylocarpotarsal synostosis
Concept	328		Congenital factor X deficiency
Concept	3282		Multifocal atrial tachycardia
Concept	3283		His bundle tachycardia
Concept	3286		Catecholaminergic polymorphic ventricular tachycardia
Concept	3287		Takayasu arteritis
Concept	329		Congenital factor XI deficiency
Concept	3291		Teebi-Shaltout syndrome
Concept	329173		Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Concept	329178		Congenital muscular dystrophy with intellectual disability and severe epilepsy
Concept	329191		Tall stature-long halluces-multiple extra-epiphyses syndrome
Concept	329195		Developmental delay with autism spectrum disorder and gait instability
Concept	3292		Tel Hashomer camptodactyly syndrome
Concept	329211		Autosomal dominant neovascular inflammatory vitreoretinopathy
Concept	329217		Cerebral sinovenous thrombosis
Concept	329224		Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	Schuurs-Hoeijmakers syndrome
Concept	329228		Microcephalic primordial dwarfism due to ZNF335 deficiency
Concept	329235		X-linked central congenital hypothyroidism with late-onset testicular enlargement
Concept	329242		Congenital chronic diarrhea with protein-losing enteropathy
Concept	329249		Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Concept	329258		Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Concept	329284		Beta-propeller protein-associated neurodegeneration
Concept	3293		Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Concept	329308		Fatty acid hydroxylase-associated neurodegeneration
Concept	329314		Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Concept	329319		Thrombocythemia with distal limb defects
Concept	329324		Inverse Klippel-Trénaunay syndrome
Concept	329329		Autosomal recessive frontotemporal pachygyria
Concept	329332		Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Concept	329336		Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Concept	3294		Extensor tendons of finger anomalies
Concept	329457		Distal arthrogryposis type 5D
Concept	329466		Autosomal dominant focal dystonia, DYT25 type
Concept	329469		Acute megakaryoblastic leukemia without Down syndrome	Acute megakaryoblastic leukemia in children without Down syndrome
Concept	329475		Spastic paraplegia-Paget disease of bone syndrome
Concept	329478		Adult-onset distal myopathy due to VCP mutation
Concept	329481		Lipoprotein glomerulopathy
Concept	32960		Tumor necrosis factor receptor 1 associated periodic syndrome
Concept	329802		5p13 microduplication syndrome
Concept	329813		Mosaic genome-wide paternal uniparental disomy
Concept	329874		Idiopathic giant cell myocarditis
Concept	329883		Non-hypoproteinemic hypertrophic gastropathy
Concept	329894		Juvenile overlap myositis
Concept	3299		Tetanus
Concept	329903		Immunoglobulin-mediated membranoproliferative glomerulonephritis
Concept	329918		C3 glomerulopathy
Concept	329931		C3 glomerulonephritis
Concept	329942		Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Concept	329967		Intermittent hydrarthrosis
Concept	329971		Generalized juvenile polyposis/juvenile polyposis coli
Concept	329977		Classic neuroendocrine tumor of appendix
Concept	329984		Goblet cell carcinoma
Concept	33		Isovaleric acidemia
Concept	330		Congenital factor XII deficiency
Concept	330001		Wild type ATTR amyloidosis
Concept	33001		Lymphedema-distichiasis syndrome
Concept	330012		High altitude pulmonary edema
Concept	330015		Lead poisoning
Concept	330021		Mercury poisoning
Concept	330029		Hypotrichosis-deafness syndrome
Concept	330032		Hemoglobin Lepore-beta-thalassemia syndrome
Concept	330041		Hemoglobin M disease
Concept	330050		DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Concept	330054		Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Concept	330058		Hydroa vacciniforme
Concept	330061		Actinic prurigo
Concept	330064		Chronic actinic dermatitis
Concept	3301		Tetraamelia-multiple malformations syndrome
Concept	3303		Tetralogy of Fallot
Concept	3304		Fallot complex-intellectual disability-growth delay syndrome
Concept	3305		Tetraploidy
Concept	3306		Inverted duplicated chromosome 15 syndrome
Concept	33067		Metaphyseal chondrodysplasia, Jansen type
Concept	33069		Dravet syndrome
Concept	3307		Tetrasomy 18p
Concept	3309		Tetrasomy 5p
Concept	331		Congenital factor XIII deficiency
Concept	3310		Tetrasomy 9p
Concept	33108		Lethal multiple pterygium syndrome
Concept	33110		Autosomal agammaglobulinemia
Concept	33111		Granulomatous slack skin
Concept	331176		Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	Severe congenital neutropenia due to G6PC3 deficiency
Concept	331187		Immunodeficiency due to MASP-2 deficiency
Concept	331190		Immunodeficiency due to ficolin3 deficiency
Concept	3312		Thalidomide embryopathy
Concept	331206		Severe combined immunodeficiency due to complete RAG1/2 deficiency
Concept	331226		Susceptibility to infection due to TYK2 deficiency
Concept	331235		Selective IgM deficiency
Concept	3314		Thiemann disease, familial form
Concept	3316		Thomas syndrome
Concept	3317		Thoracolaryngopelvic dysplasia
Concept	3318		Essential thrombocythemia
Concept	3319		Congenital amegakaryocytic thrombocytopenia
Concept	332		Congenital intrinsic factor deficiency
Concept	3320		Thrombocytopenia-absent radius syndrome
Concept	33208		Idiopathic hypersomnia
Concept	3322		Hoyeraal-Hreidarsson syndrome
Concept	33226		Waldenström macroglobulinemia
Concept	3324		Familial thrombomodulin anomalies
Concept	3325		Heparin-induced thrombocytopenia
Concept	3326		Thymic-renal-anal-lung dysplasia
Concept	3327		Thyrocerebrorenal syndrome
Concept	33276		Kaposi sarcoma
Concept	3328		Absent tibia-polydactyly-arachnoid cyst syndrome
Concept	3329		Tibial aplasia-ectrodactyly syndrome
Concept	333		Farber disease
Concept	33314		Jessner lymphocytic infiltration of the skin
Concept	33355		Reticular dysgenesis
Concept	33364		Trichothiodystrophy
Concept	3337		Primary Fanconi renotubular syndrome
Concept	3338		Toriello-Carey syndrome
Concept	3339		Toriello-Lacassie-Droste syndrome	Oculoectodermal syndrome
Concept	334		Familial atrial fibrillation
Concept	33402		Pediatric hepatocellular carcinoma
Concept	33408		Bullous lichen planus
Concept	3341		Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Concept	3342		Arterial tortuosity syndrome
Concept	3343		Toxocariasis
Concept	3344		Weismann-Netter syndrome
Concept	33445		Neuroectodermal melanolysosomal disease
Concept	3346		Tracheal agenesis
Concept	3347		Mounier-Kühn syndrome
Concept	33475		Meningococcal meningitis
Concept	3348		Tracheobronchopathia osteochondroplastica
Concept	335		Congenital fibrinogen deficiency
Concept	3350		Tremor-nystagmus-duodenal ulcer syndrome
Concept	3351		Trichodental syndrome
Concept	3352		Tricho-dento-osseous syndrome
Concept	3353		Trichodermodysplasia-dental alterations syndrome
Concept	33543		Kleine-Levin syndrome
Concept	3355		Trichoodontoonychial dysplasia
Concept	33572		5-oxoprolinase deficiency
Concept	33573		Gamma-glutamyl transpeptidase deficiency
Concept	33574		Glutamate-cysteine ligase deficiency
Concept	33577		Nodular non-suppurative panniculitis
Concept	3361		Trichodysplasia-xeroderma syndrome
Concept	3363		Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Concept	3365		Trigonocephaly-broad thumbs syndrome
Concept	3366		Non-syndromic metopic craniosynostosis
Concept	3368		Trigonocephaly-bifid nose-acral anomalies syndrome
Concept	3369		Trigonocephaly-short stature-developmental delay syndrome
Concept	337		Fibrodysplasia ossificans progressiva
Concept	3374		Unilateral ocular duplication
Concept	3375		Trisomy X
Concept	3376		Triploidy
Concept	3377		Trismus-pseudocamptodactyly syndrome
Concept	3378		Trisomy 13
Concept	3379		Distal duplication 17q
Concept	3380		Trisomy 18
Concept	3383		Humerus trochlea aplasia
Concept	3384		Truncus arteriosus	Common arterial trunk
Concept	3385		African trypanosomiasis
Concept	3386		American trypanosomiasis
Concept	3387		Isolated anterior cervical hypertrichosis
Concept	3392		Tularemia
Concept	340		Hemorrhagic fever-renal syndrome
Concept	3400		Aorto-ventricular tunnel
Concept	3402		Transient tyrosinemia of the newborn
Concept	3403		Uhl anomaly
Concept	3404		Ulbright-Hodes syndrome
Concept	3405		Umbilical cord ulceration-intestinal atresia syndrome
Concept	3406		Ulerythema ophryogenesis
Concept	3408		Upington disease
Concept	3409		Urban-Rogers-Meyer syndrome
Concept	3411		Double uterus-hemivagina-renal agenesis syndrome
Concept	3412		VACTERL with hydrocephalus
Concept	34149		Autosomal dominant tubulointerstitial kidney disease
Concept	3416		Hyperostosis corticalis generalisata
Concept	3417		Van den Bosch syndrome
Concept	342		Familial Mediterranean fever
Concept	34217		Naxos disease
Concept	3424		Velo-facial-skeletal syndrome
Concept	3426		Double outlet right ventricle
Concept	3427		Double outlet left ventricle
Concept	3429		Verloove Vanhorick-Brubakk syndrome
Concept	343		Hyperimmunoglobulinemia D with periodic fever
Concept	3433		Microcephaly-brachydactyly-kyphoscoliosis syndrome
Concept	3434		MMEP syndrome
Concept	3437		Vogt-Koyanagi-Harada disease
Concept	3439		Von Voss-Cherstvoy syndrome
Concept	3440		Waardenburg syndrome
Concept	3447		Weaver syndrome
Concept	3448		Weaver-Williams syndrome
Concept	3449		Weill-Marchesani syndrome
Concept	345		Dissecting cellulitis of the scalp
Concept	3451		Infantile spasms syndrome
Concept	34514		Telethonin-related limb-girdle muscular dystrophy R7
Concept	34515		FKRP-related limb-girdle muscular dystrophy R9
Concept	34516		DNAJB6-related limb-girdle muscular dystrophy D1
Concept	3452		Whipple disease
Concept	34520		Congenital muscular dystrophy with integrin alpha-7 deficiency
Concept	34528		Autosomal dominant primary hypomagnesemia with hypocalciuria
Concept	3453		Autoimmune polyendocrinopathy type 1
Concept	3454		Intellectual disability-developmental delay-contractures syndrome
Concept	3455		Wiedemann-Rautenstrauch syndrome
Concept	3456		Wildervanck syndrome
Concept	34587		Glycogen storage disease due to LAMP-2 deficiency	Danon disease
Concept	3459		Wilson-Turner syndrome
Concept	34592		Immunodeficiency by defective expression of MHC class I
Concept	346		Quinquaud folliculitis decalvans
Concept	3463		Wolfram syndrome
Concept	3464		Woodhouse-Sakati syndrome
Concept	3465		Worster-Drought syndrome
Concept	3466		WT limb-blood syndrome
Concept	3467		Hereditary xanthinuria
Concept	3469		XK aprosencephaly syndrome
Concept	347		Frasier syndrome
Concept	3471		Young syndrome
Concept	3472		Yunis-Varon syndrome
Concept	3473		Zimmermann-Laband syndrome
Concept	3474		CHIME syndrome
Concept	348		Fructose-1,6-bisphosphatase deficiency
Concept	349		Fucosidosis
Concept	35		Propionic acidemia
Concept	35062		Severe disseminated cytomegalovirus infection in immunocompetent patients
Concept	35063		Fulminant viral hepatitis
Concept	35069		Infantile neuroaxonal dystrophy
Concept	35078		T-B+ severe combined immunodeficiency due to JAK3 deficiency
Concept	35093		Non-syndromic sagittal craniosynostosis
Concept	35099		Non-syndromic bicoronal craniosynostosis
Concept	351		Galactosialidosis
Concept	35107		Desmosterolosis
Concept	35120		Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Concept	35121		Lysosomal acid phosphatase deficiency
Concept	35122		Congenital sucrase-isomaltase deficiency
Concept	35125		Epidermal nevus syndrome
Concept	35173		X-linked dominant chondrodysplasia punctata
Concept	352328		MEGDEL syndrome
Concept	352333		Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Concept	352403		Spectrin-associated autosomal recessive cerebellar ataxia
Concept	352447		Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Concept	352470		DNA2-related mitochondrial DNA deletion syndrome
Concept	352479		ISPD-related limb-girdle muscular dystrophy R20
Concept	352490		Autism spectrum disorder due to AUTS2 deficiency
Concept	352530		Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Concept	352540		Oncogenic osteomalacia
Concept	352563		Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Concept	352577		Bainbridge-Ropers syndrome
Concept	352582		Familial infantile myoclonic epilepsy
Concept	352587		Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Concept	352596		Progressive myoclonic epilepsy with dystonia
Concept	352629		16q24.1 microdeletion syndrome
Concept	352636		Phalangeal microgeodic syndrome
Concept	352641		Autosomal recessive cerebellar ataxia with late-onset spasticity
Concept	352649		Brain dopamine-serotonin vesicular transport disease
Concept	352654		Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Concept	352657		Hereditary benign intraepithelial dyskeratosis
Concept	352662		Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Concept	352665		Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Concept	352670		Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Concept	352675		X-linked Charcot-Marie-Tooth disease type 6
Concept	352682		Cobblestone lissencephaly without muscular or ocular involvement
Concept	352709		CLN13 disease
Concept	352712		Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Concept	352718		Progressive retinal dystrophy due to retinol transport defect
Concept	352723		Attenuated Chédiak-Higashi syndrome
Concept	352731		Oculocutaneous albinism type 1
Concept	352734		Minimal pigment oculocutaneous albinism type 1
Concept	352737		Temperature-sensitive oculocutaneous albinism type 1
Concept	352745		Oculocutaneous albinism type 7
Concept	352763		Scleredema
Concept	353		Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Concept	353217		Epileptic encephalopathy with global cerebral demyelination
Concept	353220		Familial primary localized cutaneous amyloidosis
Concept	353253		Burning mouth syndrome
Concept	353277		Rubinstein-Taybi syndrome due to CREBBP mutations
Concept	353281		Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Concept	353284		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Concept	353298		Roifman syndrome
Concept	353308		Pyruvate carboxylase deficiency, infantile type
Concept	353314		Pyruvate carboxylase deficiency, severe neonatal type
Concept	353320		Pyruvate carboxylase deficiency, benign type
Concept	353327		Congenital myasthenic syndromes with glycosylation defect
Concept	353334		Congenital retinal arteriovenous communication
Concept	353344		Idiopathic macular telangiectasia type 1
Concept	353351		Idiopathic macular telangiectasia type 3
Concept	353356		Vasoproliferative tumor of the retina
Concept	354		GM1 gangliosidosis
Concept	355		Gaucher disease
Concept	356		Gerstmann-Straussler-Scheinker syndrome
Concept	35612		Nanophthalmos
Concept	35664		ALDH18A1-related De Barsy syndrome
Concept	35686		Serpiginous choroiditis
Concept	35687		Erdheim-Chester disease
Concept	35689		Primary lateral sclerosis
Concept	356947		3q26q27 microdeletion syndrome
Concept	356961		SLC35A2-CDG
Concept	356978		D,L-2-hydroxyglutaric aciduria
Concept	356996		ANK3-related intellectual disability-sleep disturbance syndrome
Concept	357001		19p13.13 microdeletion syndrome
Concept	357008		Hemolytic uremic syndrome with DGKE deficiency
Concept	35701		3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Concept	357027		Hereditary retinoblastoma
Concept	357034		Non-hereditary retinoblastoma
Concept	35704		L-Arginine:glycine amidinotransferase deficiency
Concept	357043		Amyotrophic lateral sclerosis type 4
Concept	357058		Autosomal recessive cutis laxa type 2A
Concept	35706		Glutaric acidemia type 3
Concept	357064		Autosomal recessive cutis laxa type 2B
Concept	357074		Autosomal recessive cutis laxa type 2, classic type
Concept	35708		Aromatic L-amino acid decarboxylase deficiency
Concept	35710		Glucose-galactose malabsorption
Concept	357107		Arterial thoracic outlet syndrome
Concept	357131		Venous thoracic outlet syndrome
Concept	357154		Oral submucous fibrosis
Concept	357158		Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Concept	357175		Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Concept	357220		Primary essential cutis verticis gyrata
Concept	357225		Primary non-essential cutis verticis gyrata
Concept	357237		Severe combined immunodeficiency due to CARD11 deficiency	Combined immunodeficiency due to CARD11 deficiency
Concept	357329		Combined immunodeficiency due to IL21R deficiency
Concept	357332		Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Concept	35737		Morning glory disc anomaly
Concept	358		Gitelman syndrome
Concept	35858		Imerslund-Gräsbeck syndrome
Concept	35878		Hyperinsulinism-hyperammonemia syndrome
Concept	35889		Acute opioid intoxication
Concept	35909		Combined deficiency of factor V and factor VIII
Concept	36		Acrocallosal syndrome
Concept	360		Glioblastoma
Concept	361		Familial glucocorticoid deficiency
Concept	36234		Bacterial toxic-shock syndrome
Concept	36235		Staphylococcal scarlet fever
Concept	36236		Staphylococcal scalded skin syndrome
Concept	36237		Bullous impetigo
Concept	36238		Staphylococcal necrotizing pneumonia
Concept	36258		Buerger disease
Concept	36273		Gastric linitis plastica
Concept	363396		High myopia-sensorineural deafness syndrome
Concept	363400		Severe neurodegenerative syndrome with lipodystrophy
Concept	363409		Fetal akinesia-cerebral and retinal hemorrhage syndrome
Concept	363412		Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Concept	363417		Temtamy preaxial brachydactyly syndrome
Concept	363424		Multiple mitochondrial dysfunctions syndrome type 3
Concept	363429		Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Concept	363432		Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Concept	363444		THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Concept	363447		Autosomal dominant childhood-onset proximal spinal muscular atrophy
Concept	363454		BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Concept	363478		Paratesticular adenocarcinoma
Concept	363483		Testicular teratoma
Concept	363489		Sex cord-stromal tumor of testis
Concept	363494		Non-seminomatous germ cell tumor of testis
Concept	363523		Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Concept	363528		Intellectual disability-strabismus syndrome
Concept	363534		Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Concept	363540		Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Concept	363549		Acute encephalopathy with biphasic seizures and late reduced diffusion
Concept	36355		Bleeding disorder due to P2Y12 defect
Concept	363558		New-onset refractory status epilepticus
Concept	363611		CTCF-related neurodevelopmental disorder
Concept	363618		LMNA-related cardiocutaneous progeria syndrome
Concept	363623		GMPPB-related limb-girdle muscular dystrophy R19
Concept	363649		Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Concept	363654		X-linked parkinsonism-spasticity syndrome
Concept	363659		20q11.2 microduplication syndrome
Concept	363665		Acroosteolysis-keloid-like lesions-premature aging syndrome
Concept	36367		Distal deletion 1q
Concept	363677		Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Concept	363680		2p13.2 microdeletion syndrome
Concept	363686		Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Concept	363694		Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Concept	363700		Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Concept	363705		Craniofaciofrontodigital syndrome
Concept	363710		Spinocerebellar ataxia type 37
Concept	363717		Alexander disease type I
Concept	363722		Alexander disease type II
Concept	363727		X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Concept	363741		Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Concept	363746		Balint syndrome
Concept	36382		Familial cervical artery dissection
Concept	36383		COL4A1-related familial vascular leukoencephalopathy	COL4A1/2-related familial vascular leukoencephalopathy
Concept	36386		Hereditary sensory and autonomic neuropathy type 1
Concept	36387		Generalized epilepsy with febrile seizures-plus
Concept	363958		17q21.31 microdeletion syndrome
Concept	363965		Koolen-De Vries syndrome due to a point mutation
Concept	363969		Autosomal recessive cerebral atrophy
Concept	36397		Adiposis dolorosa
Concept	363972		Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Concept	363976		Giant cell tumor of bone
Concept	363981		Charcot-Marie-Tooth disease type 4B3
Concept	363989		Familial benign flecked retina
Concept	363992		Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Concept	363999		Non-immune hydrops fetalis
Concept	364		Glycogen storage disease due to glucose-6-phosphatase deficiency
Concept	364013		Immune hydrops fetalis
Concept	364028		X-linked intellectual disability due to GRIA3 mutations
Concept	364033		Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Concept	364039		Hydroa vacciniforme-like lymphoma
Concept	364043		ALK-positive large B-cell lymphoma
Concept	364055		Severe early-childhood-onset retinal dystrophy
Concept	364063		Infantile epileptic-dyskinetic encephalopathy
Concept	36412		Hypocomplementemic urticarial vasculitis
Concept	364198		Bipartite talus
Concept	36426		Stevens-Johnson syndrome
Concept	364577		Intellectual disability-brachydactyly-Pierre Robin syndrome
Concept	365		Glycogen storage disease due to acid maltase deficiency
Concept	366		Glycogen storage disease due to glycogen debranching enzyme deficiency
Concept	367		Glycogen storage disease due to glycogen branching enzyme deficiency
Concept	368		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Concept	36899		Myoclonus-dystonia syndrome
Concept	369		Glycogen storage disease due to liver glycogen phosphorylase deficiency
Concept	36913		Autoimmune hypoparathyroidism
Concept	369837		Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Concept	369840		TRAPPC11-related limb-girdle muscular dystrophy R18
Concept	369847		Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Concept	369852		Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Concept	369861		Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Concept	369867		Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Concept	369873		Obesity due to SIM1 deficiency
Concept	369881		2p21 microdeletion syndrome without cystinuria
Concept	369891		Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Concept	369897		Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Concept	369913		Combined oxidative phosphorylation defect type 17
Concept	369920		Pontocerebellar hypoplasia type 9
Concept	369929		Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Concept	369939		Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Concept	369942		CADDS
Concept	369950		Intellectual disability-seizures-macrocephaly-obesity syndrome
Concept	369955		Methylmalonic acidemia with homocystinuria, type cblJ
Concept	369962		Methylmalonic acidemia with homocystinuria, type cblX
Concept	369970		Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Concept	369979		Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Concept	369992		Severe dermatitis-multiple allergies-metabolic wasting syndrome
Concept	369999		Diffuse palmoplantar keratoderma with painful fissures
Concept	37		Acrodermatitis enteropathica
Concept	370002		Focal palmoplantar keratoderma with joint keratoses
Concept	370010		Intellectual disability-facial dysmorphism-hand anomalies syndrome
Concept	370015		Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Concept	370022		Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Concept	370026		Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Concept	370034		Familial syringomyelia
Concept	370039		Angora hair nevus
Concept	370046		Didymosis aplasticosebacea
Concept	370052		SCALP syndrome
Concept	370059		NEVADA syndrome
Concept	370076		Fetal carbamazepine syndrome
Concept	370079		Proximal 16p11.2 microduplication syndrome
Concept	370088		Acute infantile liver failure-multisystemic involvement syndrome
Concept	370091		Oculocutaneous albinism type 5
Concept	370097		Oculocutaneous albinism type 6
Concept	370103		Primary dystonia, DYT17 type
Concept	370109		Ataxia-telangiectasia variant
Concept	370127		Medich giant platelet syndrome
Concept	370131		White platelet syndrome
Concept	370334		Extraskeletal Ewing sarcoma
Concept	370348		Peripheral primitive neuroectodermal tumor
Concept	370396		Small cell carcinoma of the ovary
Concept	37042		Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Concept	370921		STT3A-CDG
Concept	370924		STT3B-CDG
Concept	370927		SSR4-CDG
Concept	370930		XYLT1-CDG
Concept	370933		GM3 synthase deficiency
Concept	370943		Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Concept	370959		Congenital muscular dystrophy with cerebellar involvement
Concept	370968		Congenital muscular dystrophy with intellectual disability
Concept	370980		Congenital muscular dystrophy without intellectual disability
Concept	370997		Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Concept	371		Glycogen storage disease due to muscle phosphofructokinase deficiency
Concept	371007		Congenital muscular dystrophy with hyperlaxity
Concept	371364		Hypotonia-speech impairment-severe cognitive delay syndrome
Concept	371428		Multicentric osteolysis-nodulosis-arthropathy spectrum
Concept	37202		Interstitial cystitis
Concept	373		Simpson-Golabi-Behmel syndrome
Concept	375		Anti-glomerular basement membrane disease
Concept	37553		Andersen-Tawil syndrome
Concept	37559		Acquired kinky hair syndrome
Concept	376		Gordon syndrome
Concept	37612		Episodic ataxia type 1
Concept	377		Gorlin syndrome
Concept	37748		Schnitzler syndrome
Concept	379		Chronic granulomatous disease
Concept	38		Acrokeratoelastoidosis of Costa
Concept	380		Greig cephalopolysyndactyly syndrome
Concept	381		Griscelli syndrome
Concept	382		Guanidinoacetate methyltransferase deficiency
Concept	384		Huriez syndrome
Concept	386		Hepatic cystic hamartoma
Concept	388		Hirschsprung disease
Concept	38874		Dihydropyrimidinuria
Concept	389		Langerhans cell histiocytosis
Concept	39		Acromelanosis
Concept	390		Histoplasmosis
Concept	39041		Omenn syndrome
Concept	39044		Uveal melanoma
Concept	391		Classic Hodgkin lymphoma
Concept	391307		Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Concept	391311		Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Concept	391316		Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Concept	391320		East Texas bleeding disorder
Concept	391327		X-linked calvarial hyperostosis
Concept	391330		X-linked osteoporosis with fractures
Concept	391343		Fatal post-viral neurodegenerative disorder
Concept	391348		Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Concept	391351		SURF1-related Charcot-Marie-Tooth disease type 4
Concept	391366		Growth retardation-mild developmental delay-chronic hepatitis syndrome
Concept	391372		Intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1 Syndrome
Concept	391376		Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Concept	391384		Familial episodic pain syndrome
Concept	391389		Familial episodic pain syndrome with predominantly upper body involvement
Concept	391392		Familial episodic pain syndrome with predominantly lower limb involvement
Concept	391397		Hereditary sensory and autonomic neuropathy type 7
Concept	391408		Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Concept	391411		Atypical juvenile parkinsonism
Concept	391417		HSD10 disease
Concept	391428		HSD10 disease, infantile type
Concept	391457		HSD10 disease, neonatal type
Concept	391474		Frontorhiny
Concept	391487		Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Concept	391490		Adult-onset myasthenia gravis
Concept	391497		Juvenile myasthenia gravis
Concept	391504		Transient neonatal myasthenia gravis
Concept	391641		Feingold syndrome type 1
Concept	391646		Feingold syndrome type 2
Concept	391651		Glomus tumor
Concept	391655		Off-periods in Parkinson disease not responding to oral treatment
Concept	391665		Homozygous familial hypercholesterolemia
Concept	391673		Necrotizing enterocolitis
Concept	391677		Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Concept	391723		Mucinous adenocarcinoma of the appendix
Concept	392		Holt-Oram syndrome
Concept	393		46,XX testicular difference of sex development
Concept	394		Classic homocystinuria	Homocystinuria due to cystathionine beta-synthase deficiency
Concept	394529		Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Concept	394532		Multiple acyl-CoA dehydrogenase deficiency, mild type
Concept	395		Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Concept	396		Chronic hiccup
Concept	397		Giant cell arteritis
Concept	397587		Deep dermatophytosis
Concept	397590		Silver-Russell syndrome due to a point mutation
Concept	397593		Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Concept	397596		Activated PI3K-delta syndrome
Concept	397606		PrP systemic amyloidosis
Concept	397612		Macrocephaly-developmental delay syndrome
Concept	397615		Obesity due to CEP19 deficiency
Concept	397618		Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Concept	397623		Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Concept	397685		Familial hyperprolactinemia
Concept	397692		Hereditary isolated aplastic anemia
Concept	397695		3q27.3 microdeletion syndrome
Concept	397709		Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Concept	397715		Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Concept	397725		COASY protein-associated neurodegeneration
Concept	397735		Autosomal dominant Charcot-Marie-Tooth disease type 2U
Concept	397744		Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Concept	397750		Periodic paralysis with later-onset distal motor neuropathy
Concept	397755		Periodic paralysis with transient compartment-like syndrome
Concept	397758		Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Concept	397787		Severe combined immunodeficiency due to IKK2 deficiency
Concept	397922		Ferro-cerebro-cutaneous syndrome
Concept	397927		Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Concept	397933		Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Concept	397937		Polyglucosan body myopathy type 1
Concept	397941		MAN1B1-CDG
Concept	397946		Autosomal spastic paraplegia type 58
Concept	397951		Microcephaly-thin corpus callosum-intellectual disability syndrome
Concept	397959		TCR-alpha-beta-positive T-cell deficiency
Concept	397964		Combined immunodeficiency due to MALT1 deficiency
Concept	397968		Charcot-Marie-Tooth disease type 2R
Concept	397973		Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Concept	398053		Adenocarcinoma of the penis
Concept	398058		Squamous cell carcinoma of the penis
Concept	398063		Refractory celiac disease
Concept	398069		MAGEL2-related Prader-Willi-like syndrome
Concept	398079		SIM1-related Prader-Willi-like syndrome
Concept	398088		Hereditary cryohydrocytosis with normal stomatin
Concept	398097		Neonatal antiphospholipid syndrome
Concept	398109		Neonatal autoimmune hemolytic anemia
Concept	398117		Neonatal dermatomyositis
Concept	39812		Graft versus host disease
Concept	398124		Neonatal lupus erythematosus
Concept	398127		Neonatal scleroderma
Concept	398147		Persistent idiopathic facial pain
Concept	398156		Oculoauriculofrontonasal syndrome
Concept	398166		Focal facial dermal dysplasia
Concept	398173		Focal facial dermal dysplasia type II
Concept	398189		Focal facial dermal dysplasia type IV
Concept	398961		Mucinous adenocarcinoma of ovary
Concept	398971		Clear cell adenocarcinoma of the ovary
Concept	398987		Malignant teratoma of ovary
Concept	399		Huntington disease
Concept	399058		Alpha-B crystallin-related late-onset myopathy
Concept	399081		KLHL9-related early-onset distal myopathy
Concept	399086		Finnish upper limb-onset distal myopathy
Concept	399096		Distal anoctaminopathy
Concept	399103		Distal nebulin myopathy
Concept	399175		Traumatic avascular necrosis
Concept	399180		Secondary non-traumatic avascular necrosis
Concept	399293		Osteonecrosis of the jaw
Concept	399307		Idiopathic avascular necrosis
Concept	399329		Epiphysiolysis of the hip
Concept	399805		Male infertility with azoospermia or oligozoospermia due to single gene mutation
Concept	399808		Male infertility with teratozoospermia due to single gene mutation
Concept	40		Acromesomelic dysplasia, Maroteaux type
Concept	400		Cystic echinococcosis
Concept	401		Hymenolepiasis
Concept	401764		Pancytopenia-developmental delay syndrome
Concept	401768		Proximal myopathy with extrapyramidal signs
Concept	401777		Optic atrophy-intellectual disability syndrome
Concept	401780		Autosomal recessive spastic paraplegia type 61
Concept	401785		Autosomal recessive spastic paraplegia type 62
Concept	401795		Autosomal recessive spastic paraplegia type 59
Concept	401800		Autosomal recessive spastic paraplegia type 60
Concept	401805		Autosomal recessive spastic paraplegia type 63
Concept	401810		Autosomal recessive spastic paraplegia type 64
Concept	401815		Autosomal recessive spastic paraplegia type 66
Concept	401820		Autosomal recessive spastic paraplegia type 67
Concept	401830		Autosomal recessive spastic paraplegia type 69
Concept	401835		Autosomal recessive spastic paraplegia type 70
Concept	401840		Autosomal recessive spastic paraplegia type 71
Concept	401849		Autosomal spastic paraplegia type 72
Concept	401859		Lipoic acid synthetase deficiency
Concept	401862		Lipoyl transferase 1 deficiency
Concept	401866		Childhood-onset spasticity with hyperglycinemia
Concept	401869		Multiple mitochondrial dysfunctions syndrome type 1
Concept	401874		Multiple mitochondrial dysfunctions syndrome type 2
Concept	401901		Huntington disease-like syndrome due to C9ORF72 expansions
Concept	401911		AXIN2-related attenuated familial adenomatous polyposis
Concept	401920		Fibrolamellar hepatocellular carcinoma
Concept	401923		9q31.1q31.3 microdeletion syndrome
Concept	401935		14q24.1q24.3 microdeletion syndrome
Concept	401942		Familial median cleft of the upper and lower lips
Concept	401945		Moyamoya disease with early-onset achalasia
Concept	401948		Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Concept	401953		Episodic ataxia with slurred speech
Concept	401959		Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Concept	401964		Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Concept	401973		MEND syndrome
Concept	401979		Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Concept	401986		1p31p32 microdeletion syndrome
Concept	401996		Karyomegalic interstitial nephritis
Concept	402003		Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Concept	402014		Acute myeloid leukemia with t(6;9)(p23;q34)
Concept	402017		Acute myeloid leukemia with t(9;11)(p22;q23)
Concept	402020		Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Concept	402023		Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Concept	402026		Acute myeloid leukemia with NPM1 somatic mutations
Concept	402035		Eosinophilic colitis
Concept	402041		Autosomal recessive distal renal tubular acidosis
Concept	402075		Familial bicuspid aortic valve
Concept	402082		Progressive myoclonic epilepsy type 5
Concept	402364		Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Concept	402823		Hepatitis delta
Concept	403		Familial hyperaldosteronism type I
Concept	40366		Acitretin/etretinate embryopathy
Concept	404		Familial hyperaldosteronism type II
Concept	404437		Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Concept	404440		Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Concept	404443		Tatton-Brown-Rahman syndrome
Concept	404448		ADNP syndrome
Concept	404451		FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Concept	404454		Alacrimia-choreoathetosis-liver dysfunction syndrome
Concept	404463		Multisystemic smooth muscle dysfunction syndrome
Concept	404466		Female infertility due to zona pellucida defect
Concept	404473		Severe intellectual disability-progressive spastic diplegia syndrome
Concept	404476		Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Concept	404493		Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Concept	404499		Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Concept	404507		Chondromyxoid fibroma
Concept	404511		Clear cell papillary renal cell carcinoma
Concept	404514		Acquired cystic disease-associated renal cell carcinoma
Concept	404521		Spinal muscular atrophy with respiratory distress type 2
Concept	404546		DITRA
Concept	404553		Vasculitis due to ADA2 deficiency	Adenosine deaminase 2 deficiency
Concept	404560		Familial atypical multiple mole melanoma syndrome
Concept	405		Familial hypocalciuric hypercalcemia
Concept	407		Glycine encephalopathy
Concept	408		Isolated glycerol kinase deficiency
Concept	409		Hyperkeratosis lenticularis perstans
Concept	40923		Eales disease
Concept	41		Dyschromatosis symmetrica hereditaria
Concept	411493		Pontocerebellar hypoplasia type 10
Concept	411501		Williams-Campbell syndrome
Concept	411511		Angelman syndrome due to a point mutation
Concept	411515		Angelman syndrome due to imprinting defect in 15q11-q13
Concept	411527		Central retinal vein occlusion
Concept	411536		Mild phosphoribosylpyrophosphate synthetase superactivity
Concept	411543		Severe phosphoribosylpyrophosphate synthetase superactivity
Concept	411590		Wolfram-like syndrome
Concept	411593		Insulin autoimmune syndrome
Concept	411602		Hereditary late-onset Parkinson disease
Concept	411629		Infantile nephropathic cystinosis
Concept	411634		Juvenile nephropathic cystinosis
Concept	411641		Ocular cystinosis
Concept	411696		Proton-pump inhibitor-responsive esophageal eosinophilia
Concept	411703		Pulmonary non-tuberculous mycobacterial infection
Concept	411709		Renal agenesis
Concept	411712		Maternal riboflavin deficiency
Concept	411777		Generalized eruptive keratoacanthoma
Concept	411788		Familial isolated trichomegaly
Concept	411986		Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Concept	412		Dysbetalipoproteinemia
Concept	412022		Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Concept	412035		13q12.3 microdeletion syndrome
Concept	412057		Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Concept	412066		PRKAR1B-related neurodegenerative dementia with intermediate filaments
Concept	412069		AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Concept	412181		Epidermolysis bullosa simplex due to BP230 deficiency
Concept	412189		Epidermolysis bullosa simplex due to exophilin 5 deficiency
Concept	412206		Primary failure of tooth eruption
Concept	412217		Dystonia-aphonia syndrome
Concept	414		Gyrate atrophy of choroid and retina
Concept	415		Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Concept	416		Primary hyperoxaluria
Concept	417		Neonatal severe primary hyperparathyroidism
Concept	41751		Bietti crystalline dystrophy
Concept	418945		Carcinoma of esophagus, salivary gland type
Concept	418951		Undifferentiated carcinoma of esophagus
Concept	418959		Squamous cell carcinoma of the stomach
Concept	419		Hyperprolinemia type 1
Concept	42		Medium chain acyl-CoA dehydrogenase deficiency
Concept	420179		Malan overgrowth syndrome
Concept	420259		Secondary pulmonary alveolar proteinosis
Concept	420402		Semicircular canal dehiscence syndrome
Concept	420429		Glycogen storage disease due to acid maltase deficiency, late-onset
Concept	420485		Cranio-cervical dystonia with laryngeal and upper-limb involvement
Concept	420492		Adult-onset cervical dystonia, DYT23 type
Concept	420556		Visual snow syndrome
Concept	420561		Temple-Baraitser syndrome
Concept	420566		Bleeding disorder due to CalDAG-GEFI deficiency
Concept	420573		Severe combined immunodeficiency due to CTPS1 deficiency
Concept	420584		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Concept	420611		Transient myeloproliferative syndrome
Concept	42062		Iminoglycinuria
Concept	420686		Woolly hair-palmoplantar keratoderma syndrome
Concept	420699		Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Concept	420702		Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Concept	420728		Combined oxidative phosphorylation defect type 20
Concept	420733		Combined oxidative phosphorylation defect type 21
Concept	420741		RIDDLE syndrome
Concept	420789		Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Concept	420794		Cono-spondylar dysplasia
Concept	422		Idiopathic/heritable pulmonary arterial hypertension
Concept	422526		Hereditary clear cell renal cell carcinoma
Concept	423		Malignant hyperthermia of anesthesia
Concept	423275		Spinocerebellar ataxia type 40
Concept	423296		Spinocerebellar ataxia type 38
Concept	423306		Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Concept	423384		Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Severe congenital neutropenia due to JAGN1 deficiency
Concept	423454		Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Concept	423461		Mucolipidosis type III alpha/beta
Concept	423470		Mucolipidosis type III gamma
Concept	423479		X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Concept	423693		Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
Concept	423712		Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Concept	423717		Cutaneous larva migrans
Concept	423786		Undifferentiated carcinoma of stomach
Concept	423894		Microcephaly-complex motor and sensory axonal neuropathy syndrome
Concept	423968		Squamous cell carcinoma of the small intestine
Concept	423994		Squamous cell carcinoma of the colon
Concept	424		Familial hyperthyroidism due to mutations in TSH receptor
Concept	424002		Squamous cell carcinoma of the rectum
Concept	424016		Adenocarcinoma of the anal canal
Concept	424019		Squamous cell carcinoma of the anal canal
Concept	424027		Progressive myoclonic epilepsy type 8
Concept	424039		Squamous cell carcinoma of pancreas
Concept	424046		Acinar cell carcinoma of pancreas
Concept	424053		Mucinous cystadenocarcinoma of the pancreas
Concept	424058		Intraductal papillary mucinous carcinoma of pancreas
Concept	424065		Solid pseudopapillary carcinoma of pancreas
Concept	424073		Serous cystadenocarcinoma of pancreas
Concept	424080		Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
Concept	424099		Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Concept	424107		Congenital myopathy with myasthenic-like onset
Concept	424261		TOR1AIP1-related limb-girdle muscular dystrophy
Concept	424943		Adenocarcinoma of the liver and intrahepatic biliary tract
Concept	424970		Undifferentiated carcinoma of liver and intrahepatic biliary tract
Concept	424975		Squamous cell carcinoma of liver and intrahepatic biliary tract
Concept	424982		Biliary cystadenocarcinoma
Concept	424991		Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Concept	424996		Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
Concept	425		Apolipoprotein A-I deficiency
Concept	425120		STING-associated vasculopathy with onset in infancy
Concept	42642		PFAPA syndrome
Concept	42665		Tietz syndrome
Concept	427		Familial hypoaldosteronism
Concept	42775		PHACE syndrome
Concept	428		Autosomal dominant hypocalcemia
Concept	429		Hypochondroplasia
Concept	43		X-linked adrenoleukodystrophy
Concept	431140		X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Concept	431149		Combined immunodeficiency due to OX40 deficiency
Concept	43115		Hereditary myopathy with lactic acidosis due to ISCU deficiency
Concept	43116		Serotonin syndrome
Concept	431166		Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Concept	43117		Acute tricyclic antidepressant poisoning
Concept	43119		Acute poisoning by drugs with membrane-stabilizing effect
Concept	431255		Scapuloperoneal spinal muscular atrophy
Concept	431272		X-linked scapuloperoneal muscular dystrophy
Concept	431329		Autosomal recessive spastic paraplegia type 57
Concept	431341		Patent urachus
Concept	431344		Urachal sinus
Concept	431347		Urachal diverticulum
Concept	431361		Progressive encephalopathy with leukodystrophy due to DECR deficiency
Concept	432		Normosmic congenital hypogonadotropic hypogonadism
Concept	43393		Lambert-Eaton myasthenic syndrome
Concept	434179		Orofaciodigital syndrome type 14
Concept	435329		Familial ossifying fibroma
Concept	435372		Anterior urethral valve
Concept	435387		Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Concept	435438		Progressive myoclonic epilepsy type 7
Concept	435628		Keppen-Lubinsky syndrome
Concept	435638		3p25.3 microdeletion syndrome
Concept	435651		CIDEC-related familial partial lipodystrophy
Concept	435660		LIPE-related familial partial lipodystrophy
Concept	435804		Short stature-advanced bone age-early-onset osteoarthritis syndrome
Concept	435819		Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Concept	435845		Lethal neonatal spasticity-epileptic encephalopathy syndrome
Concept	435930		Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Concept	435934		COG2-CDG
Concept	435938		X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Concept	435953		Progeroid features-hepatocellular carcinoma predisposition syndrome
Concept	435988		Chronic atrial and intestinal dysrhythmia syndrome
Concept	435998		Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Concept	436		Hypophosphatasia
Concept	436003		Contractures-developmental delay-Pierre Robin syndrome
Concept	436141		Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	HIDEA syndrome
Concept	436144		Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Concept	436151		Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Concept	436159		Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Concept	436166		Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Concept	436169		Thrombomodulin-related bleeding disorder
Concept	436174		Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Concept	436182		Microcephalic primordial dwarfism-insulin resistance syndrome
Concept	436242		Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Concept	436245		Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Concept	436252		Combined immunodeficiency-enteropathy spectrum
Concept	436271		Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Concept	436274		Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Concept	437552		Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Concept	438075		Ketoacidosis due to monocarboxylate transporter-1 deficiency
Concept	438114		RARS-related autosomal recessive hypomyelinating leukodystrophy
Concept	438117		Steel syndrome
Concept	438134		PCNA-related progressive neurodegenerative photosensitivity syndrome
Concept	438159		STAT3-related early-onset multisystem autoimmune disease
Concept	438178		Fatty acyl-CoA reductase 1 deficiency
Concept	438207		Severe autosomal recessive macrothrombocytopenia
Concept	438213		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Concept	438216		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Concept	438266		Progressive encephalomyelitis with rigidity and myoclonus
Concept	438274		GCGR-related hyperglucagonemia
Concept	438279		Human infection by orthopoxvirus
Concept	439		Isolated right ventricular hypoplasia
Concept	439167		Placental insufficiency
Concept	439175		Pediatric arterial ischemic stroke
Concept	439196		Zinc-responsive necrolytic acral erythema
Concept	439202		Non-recovering obstetric brachial plexus lesion
Concept	439212		Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Concept	439218		KCNQ2-related epileptic encephalopathy
Concept	439224		ALECT2 amyloidosis
Concept	439232		AApoAIV amyloidosis
Concept	439254		ITM2B amyloidosis
Concept	439729		Cutaneous polyarteritis nodosa
Concept	439737		Primary polyarteritis nodosa
Concept	439746		Secondary polyarteritis nodosa
Concept	439755		Single-organ polyarteritis nodosa
Concept	439762		Systemic polyarteritis nodosa
Concept	439822		PDE4D haploinsufficiency syndrome
Concept	439854		Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Concept	439881		Plastic bronchitis
Concept	439897		Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Concept	44		Neonatal adrenoleukodystrophy
Concept	440221		Congenital oculomotor nerve palsy
Concept	440233		Congenital abducens nerve palsy
Concept	440354		Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Concept	440368		Necrotizing soft tissue infection
Concept	440392		Interstitial lung disease due to SP-C deficiency
Concept	440402		Interstitial lung disease due to ABCA3 deficiency
Concept	440427		Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Concept	440437		Familial colorectal cancer Type X
Concept	440706		Ribose-5-P isomerase deficiency
Concept	440713		Isolated sedoheptulokinase deficiency
Concept	440724		Extensive peripapillary myelinated nerve fibers
Concept	440727		Combined hamartoma of the retina and retinal pigment epithelium
Concept	440731		L-ferritin deficiency
Concept	440987		Isolated agenesis of gallbladder
Concept	441		Pure autonomic failure
Concept	441447		Early-onset posterior subcapsular cataract
Concept	441452		Early-onset lamellar cataract
Concept	442582		AH amyloidosis
Concept	442835		Non-specific early-onset epileptic encephalopathy
Concept	443057		Sporadic porphyria cutanea tarda
Concept	443062		Familial porphyria cutanea tarda
Concept	443070		Hemicrania continua
Concept	443073		Charcot-Marie-Tooth disease type 2S
Concept	443079		Central serous chorioretinopathy
Concept	443084		Baroreflex failure
Concept	443087		46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Concept	443098		Hyperostosis cranialis interna
Concept	443101		Hypothalamic adipsic hypernatraemia syndrome
Concept	443159		Lymphoplasmacytic lymphoma without IgM production
Concept	443162		NDE1-related microhydranencephaly
Concept	443167		NUT midline carcinoma
Concept	443173		Postpartum psychosis
Concept	443180		Spontaneous intracranial hypotension
Concept	443192		Classic stiff person syndrome
Concept	443197		X-linked erythropoietic protoporphyria
Concept	443227		Paratyphoid fever
Concept	443236		Postural orthostatic tachycardia syndrome due to NET deficiency
Concept	443291		HIV-associated cancer
Concept	443804		Focal stiff limb syndrome
Concept	443811		PGM3-CDG
Concept	443950		DNAJB2-related Charcot-Marie-Tooth disease type 2
Concept	443988		Ventriculomegaly-cystic kidney disease
Concept	443995		Mandibulofacial dysostosis with alopecia
Concept	444		Marie Unna hereditary hypotrichosis
Concept	444002		11q22.2q22.3 microdeletion syndrome
Concept	444013		Combined oxidative phosphorylation defect type 23
Concept	444048		46,XX ovarian dysgenesis-short stature syndrome
Concept	444051		20q11.2 microdeletion syndrome
Concept	444069		Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Concept	444072		Cerebellar-facial-dental syndrome
Concept	444077		Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Concept	444092		Autoimmune interstitial lung disease-arthritis syndrome
Concept	444099		Autosomal dominant spastic paraplegia type 73
Concept	444138		Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Concept	444316		Idiopathic phalangeal acro-osteolysis
Concept	444458		Combined oxidative phosphorylation defect type 24
Concept	444463		Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Concept	444490		Familial chylomicronemia syndrome
Concept	445018		Combined immunodeficiency due to LRBA deficiency
Concept	445038		3-methylglutaconic aciduria type 7	3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Concept	445062		Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Concept	445110		Limb-girdle muscular dystrophy due to POMK deficiency
Concept	446		Neonatal hemochromatosis
Concept	447		Paroxysmal nocturnal hemoglobinuria
Concept	447731		NIK deficiency
Concept	447737		DOCK2 deficiency	Combined immunodeficiency due to DOCK2 deficiency
Concept	447740		Susceptibility to localized juvenile periodontitis
Concept	447753		Autosomal dominant spastic paraplegia type 9A
Concept	447757		Autosomal dominant spastic paraplegia type 9B
Concept	447760		Autosomal recessive spastic paraplegia type 9B
Concept	447764		IgG4-related sclerosing cholangitis
Concept	447774		Secondary sclerosing cholangitis
Concept	447777		Keratocystic odontogenic tumor
Concept	447784		Mitochondrial pyruvate carrier deficiency
Concept	447788		Cerebral visual impairment
Concept	447795		Lipoyl transferase 2 deficiency
Concept	447877		Polymerase proofreading-related adenomatous polyposis
Concept	447881		Idiopathic dropped head syndrome
Concept	447893		Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Concept	447896		Tremor-ataxia-central hypomyelination syndrome
Concept	447954		Combined oxidative phosphorylation defect type 25
Concept	447961		Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Concept	447964		Autosomal dominant Charcot-Marie-Tooth disease type 2V
Concept	447974		Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Concept	447977		Progressive scapulohumeroperoneal distal myopathy
Concept	447980		19p13.3 microduplication syndrome
Concept	447997		Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Concept	448010		CAD-CDG
Concept	448237		Zika virus disease
Concept	448242		Autosomal recessive brachyolmia
Concept	448251		Progressive autosomal recessive ataxia-deafness syndrome
Concept	448264		Isolated focal non-epidermolytic palmoplantar keratoderma
Concept	448267		Regressive spondylometaphyseal dysplasia
Concept	448270		Ectopia cordis
Concept	44890		Gastrointestinal stromal tumor
Concept	449		Hepatoblastoma
Concept	449266		Pleural empyema
Concept	449280		Scedosporiosis
Concept	449285		Snakebite envenomation
Concept	449291		Symptomatic form of fragile X syndrome in female carriers
Concept	449395		IgG4-related kidney disease
Concept	449400		IgG4-related aortitis
Concept	449427		IgG4-related pachymeningitis
Concept	449432		IgG4-related submandibular gland disease
Concept	449563		IgG4-related ophthalmic disease
Concept	449566		Eosinophilic angiocentric fibrosis
Concept	45		Adenosine monophosphate deaminase deficiency
Concept	450322		Polyclonal hyperviscosity syndrome
Concept	451602		Primary cutaneous plasmacytosis
Concept	451607		Cutaneous pseudolymphoma
Concept	451612		Familial congenital nasolacrimal duct obstruction
Concept	452		X-linked lissencephaly with abnormal genitalia
Concept	453499		Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Concept	453504		Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Concept	453510		Congenital insensitivity to pain with severe intellectual disability
Concept	453521		Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Concept	453533		Polyendocrine-polyneuropathy syndrome
Concept	45358		Congenital fibrosis of extraocular muscles
Concept	454		Acquired ichthyosis
Concept	45448		Miyoshi myopathy
Concept	45452		Idiopathic neonatal atrial flutter
Concept	45453		Incessant infant ventricular tachycardia
Concept	454706		Progressive muscular atrophy
Concept	454710		Anti-p200 pemphigoid
Concept	454714		Plasma cell leukemia
Concept	454718		Holmes-Adie syndrome
Concept	454723		Endometrioid carcinoma of ovary
Concept	454742		Variably protease-sensitive prionopathy
Concept	454745		Kuru
Concept	454750		Isolated tracheoesophageal fistula
Concept	454821		Pleomorphic salivary gland adenoma
Concept	454831		Acute radiation syndrome
Concept	454836		Avian influenza
Concept	454840		NTHL1-related attenuated familial adenomatous polyposis
Concept	454887		Corticobasal syndrome
Concept	455		Superficial epidermolytic ichthyosis
Concept	456298		1p35.2 microdeletion syndrome
Concept	456312		Infantile multisystem neurologic-endocrine-pancreatic disease
Concept	456318		Hereditary sensory neuropathy-deafness-dementia syndrome
Concept	456328		X-linked myotubular myopathy-abnormal genitalia syndrome
Concept	456333		Hereditary neuroendocrine tumor of small intestine
Concept	456369		Polyglucosan body myopathy type 2
Concept	457		Harlequin ichthyosis
Concept	457050		Autosomal dominant mitochondrial myopathy with exercise intolerance
Concept	457077		TAFRO syndrome
Concept	457083		Isolated splenogonadal fusion
Concept	457088		Predisposition to invasive fungal disease due to CARD9 deficiency
Concept	457095		Actinomycosis
Concept	457185		Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Concept	457193		Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Concept	457205		Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Concept	457212		Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Concept	457223		Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Concept	457240		X-linked intellectual disability-short stature-overweight syndrome
Concept	457246		Clear cell sarcoma of kidney
Concept	457260		X-linked intellectual disability-hypotonia-movement disorder syndrome
Concept	457265		Progressive myoclonic epilepsy type 9
Concept	457279		Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Concept	457284		Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Concept	457351		Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Concept	457359		Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Concept	457365		Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Concept	457375		ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Concept	457378		Complex lethal osteochondrodysplasia
Concept	457395		Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Concept	457406		Multiple mitochondrial dysfunctions syndrome type 4
Concept	457485		Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Concept	458718		Idiopathic spontaneous coronary artery dissection
Concept	458758		Composite hemangioendothelioma
Concept	458763		Retiform hemangioendothelioma
Concept	458768		Primary intralymphatic angioendothelioma	Papillary intralymphatic angioendothelioma
Concept	458785		Partially involuting congenital hemangioma
Concept	458792		Mixed cystic lymphatic malformation
Concept	458798		Spinocerebellar ataxia type 41
Concept	458803		Spinocerebellar ataxia type 42
Concept	459033		Ataxia-oculomotor apraxia type 4
Concept	459051		Spondyloepiphyseal dysplasia, Stanescu type
Concept	459056		Autosomal recessive spastic paraplegia type 75
Concept	459061		Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Concept	459070		X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Concept	459074		Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Concept	46		Adenylosuccinate lyase deficiency
Concept	46059		Lathosterolosis
Concept	461		Recessive X-linked ichthyosis
Concept	46135		Primary central nervous system lymphoma
Concept	46348		Paroxysmal extreme pain disorder
Concept	464		Incontinentia pigmenti
Concept	464282		Spastic paraplegia-severe developmental delay-epilepsy syndrome
Concept	464288		Short stature-brachydactyly-obesity-global developmental delay syndrome
Concept	464306		DYRK1A-related intellectual disability syndrome
Concept	464311		Intellectual disability syndrome due to a DYRK1A point mutation
Concept	464318		Verrucous hemangioma
Concept	464321		Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Concept	464329		Kaposiform lymphangiomatosis
Concept	464336		BENTA disease
Concept	464343		Catastrophic antiphospholipid syndrome
Concept	464359		Benign metanephric tumor
Concept	464366		NEK9-related lethal skeletal dysplasia
Concept	464370		Neonatal alloimmune neutropenia
Concept	464440		Primary dystonia, DYT27 type
Concept	464443		COG6-CGD
Concept	464453		Acquired methemoglobinemia
Concept	464458		Paracetamol poisoning
Concept	464724		Fever-associated acute infantile liver failure syndrome
Concept	464738		Basel-Vanagaite-Smirin-Yosef syndrome
Concept	464756		Familial gastric type 1 neuroendocrine tumor
Concept	464760		Familial cavitary optic disc anomaly
Concept	46486		Mucous membrane pemphigoid
Concept	46487		Epidermolysis bullosa acquisita
Concept	46488		Linear IgA dermatosis
Concept	465		Congenital plasminogen activator inhibitor type 1 deficiency
Concept	46532		Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Concept	465508		Symptomatic form of HFE-related hemochromatosis
Concept	465824		Fetal encasement syndrome
Concept	466		Fatal familial insomnia
Concept	466026		Class I glucose-6-phosphate dehydrogenase deficiency
Concept	46627		Char syndrome
Concept	466650		Exercise-induced malignant hyperthermia
Concept	466670		Cyanide poisoning
Concept	466677		Scorpion envenomation
Concept	466682		Euthyroid Graves orbitopathy
Concept	466688		Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Concept	466695		Supratip dysplasia
Concept	466703		TMEM199-CDG
Concept	466718		Martinique crinkled retinal pigment epitheliopathy
Concept	466722		Autosomal recessive spastic paraplegia type 77
Concept	466729		Familial patent arterial duct
Concept	466768		Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Concept	466775		Autosomal recessive Charcot-Marie-Tooth disease type 2X
Concept	466784		Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Concept	466791		Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Concept	466794		Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Concept	466806		Autosomal dominant thrombocytopenia with platelet secretion defect
Concept	466921		Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Concept	466926		Seizures-scoliosis-macrocephaly syndrome
Concept	466934		VPS11-related autosomal recessive hypomyelinating leukodystrophy
Concept	466943		WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Concept	466950		Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Concept	466962		SMARCA4-deficient sarcoma of thorax
Concept	467166		Tubulinopathy-associated dysgyria
Concept	467176		Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Concept	46724		Cerebral arteriovenous malformation
Concept	468620		Intellectual disability-epilepsy-extrapyramidal syndrome
Concept	468631		Microcephalic cortical malformations-short stature due to RTTN deficiency
Concept	468635		Cryptogenic multifocal ulcerous stenosing enteritis
Concept	468641		Chronic enteropathy associated with SLCO2A1 gene
Concept	468661		Autosomal recessive spastic paraplegia type 74
Concept	468666		Isolated generalized anhidrosis with normal sweat glands
Concept	468672		Colobomatous macrophthalmia-microcornea syndrome
Concept	468678		White-Sutton syndrome
Concept	468684		CCDC115-CDG
Concept	468699		SLC39A8-CDG
Concept	468717		Rhizomelic chondrodysplasia punctata type 5
Concept	468726		Severe primary trimethylaminuria
Concept	469		Hereditary fructose intolerance
Concept	47		X-linked agammaglobulinemia
Concept	470		Lysinuric protein intolerance
Concept	47044		Hereditary papillary renal cell carcinoma
Concept	47045		Familial cold urticaria
Concept	47159		Proximal renal tubular acidosis
Concept	472		Isosporiasis
Concept	474		Jeune syndrome
Concept	475		Joubert syndrome
Concept	476084		BVES-related limb-girdle muscular dystrophy
Concept	476093		Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Concept	476096		Erythrokeratodermia-cardiomyopathy syndrome
Concept	476102		Version: Hereditary pediatric Behçet-like disease		Removed this Concept
Concept	476113		Combined immunodeficiency due to TFRC deficiency
Concept	476119		Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Concept	47612		Felty syndrome
Concept	476126		Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Concept	476394		PMP2-related Charcot-Marie-Tooth disease type 1
Concept	476406		Congenital generalized hypercontractile muscle stiffness syndrome
Concept	477		KID syndrome
Concept	477650		Fibroblastic rheumatism
Concept	477661		IL21-related infantile inflammatory bowel disease
Concept	477673		Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Concept	477684		Combined oxidative phosphorylation defect type 26
Concept	477738		Pediatric multiple sclerosis
Concept	477742		Nodular fasciitis
Concept	477749		Pontine autosomal dominant microangiopathy with leukoencephalopathy
Concept	477774		Combined oxidative phosphorylation defect type 27
Concept	477781		Primary condylar hyperplasia
Concept	477787		Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Concept	477814		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Concept	477817		PMP22-RAI1 contiguous gene duplication syndrome
Concept	477831		Kosaki overgrowth syndrome
Concept	477857		Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Concept	477993		Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Concept	478		Kallmann syndrome
Concept	478029		Combined oxidative phosphorylation defect type 29
Concept	478042		Combined oxidative phosphorylation defect type 30
Concept	478049		Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Concept	478664		Hereditary sensory and autonomic neuropathy type 8
Concept	48		Congenital bilateral absence of vas deferens
Concept	480		Kearns-Sayre syndrome
Concept	480476		Progressive familial intrahepatic cholestasis type 5
Concept	480483		Progressive familial intrahepatic cholestasis type 4
Concept	480491		MYO5B-related progressive familial intrahepatic cholestasis
Concept	480501		Choledochal cyst
Concept	480506		Primary intrahepatic lithiasis
Concept	480512		Idiopathic ductopenia
Concept	480520		Caroli syndrome
Concept	480524		Idiopathic peliosis hepatis
Concept	480528		Lethal hydranencephaly-diaphragmatic hernia syndrome
Concept	480531		Congenital portosystemic shunt
Concept	480536		MSH3-related attenuated familial adenomatous polyposis
Concept	480541		High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Concept	480553		Aneurysmal bone cyst
Concept	480556		Isolated neonatal sclerosing cholangitis
Concept	480682		POGLUT1-related limb-girdle muscular dystrophy R21
Concept	480701		Facial diplegia with paresthesias
Concept	480851		Hereditary thrombocytopenia with early-onset myelofibrosis
Concept	480864		Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Concept	480880		X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Concept	480898		Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Concept	480907		X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Concept	481		Kennedy disease
Concept	48104		Pyoderma gangrenosum
Concept	481152		PYCR2-related microcephaly-progressive leukoencephalopathy
Concept	48162		Lewis-Sumner syndrome
Concept	481662		Familial Chilblain lupus
Concept	481665		USP18 deficiency
Concept	481986		Familial schizencephaly
Concept	482		Kimura disease
Concept	482077		HTRA1-related autosomal dominant cerebral small vessel disease
Concept	482601		Adenylosuccinate synthetase-like 1-related distal myopathy
Concept	482606		X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Concept	483		Congenital high-molecular-weight kininogen deficiency
Concept	48372		Nodular regenerative hyperplasia of the liver
Concept	48377		Subcorneal pustular dermatosis
Concept	48431		Congenital cataracts-facial dysmorphism-neuropathy syndrome
Concept	48435		Postinfectious vasculitis
Concept	485		Kniest dysplasia
Concept	485275		Acquired schizencephaly
Concept	485350		CLCN4-related X-linked intellectual disability syndrome
Concept	485358		Propylthiouracil embryofetopathy
Concept	485405		16p12.1p12.3 triplication syndrome
Concept	485418		EMILIN-1-related connective tissue disease
Concept	485421		MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Concept	485426		Isolated congenital hepatic fibrosis
Concept	486		Autosomal dominant severe congenital neutropenia
Concept	48652		Monosomy 22q13.3	Phelan-McDermid syndrome
Concept	486811		Prenatal-onset spinal muscular atrophy with congenital bone fractures
Concept	486815		Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Concept	48686		Primary effusion lymphoma
Concept	487		Krabbe disease
Concept	48736		Embryonal carcinoma of the central nervous system
Concept	487796		Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	Takenouchi-Kosaki syndrome
Concept	487809		Pediatric collagenous gastritis
Concept	487814		Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Concept	487825		Pierpont syndrome
Concept	488		Urachal cyst
Concept	488168		Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Concept	48818		Aceruloplasminemia
Concept	488191		Female infertility due to oocyte meiotic arrest
Concept	488197		Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Concept	488232		Split-foot malformation-mesoaxial polydactyly syndrome
Concept	488239		Acute macular neuroretinopathy
Concept	488265		Osteofibrous dysplasia
Concept	488280		14q32 duplication syndrome
Concept	488333		Autosomal dominant Charcot-Marie-Tooth disease type 2W
Concept	488434		Camptodactyly syndrome, Guadalajara type 3
Concept	488437		SIX2-related frontonasal dysplasia
Concept	488586		Congenital amyoplasia
Concept	488594		Autosomal recessive spastic paraplegia type 76
Concept	488613		Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Concept	488618		Transketolase deficiency
Concept	488627		Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Concept	488632		TBCK-related intellectual disability syndrome
Concept	488635		Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Concept	488642		TELO2-related intellectual disability-neurodevelopmental disorder
Concept	488647		DDX41-related hematologic malignancy predisposition syndrome
Concept	488650		Distal myopathy, Tateyama type
Concept	48918		Focal myositis
Concept	49		Penile agenesis
Concept	490		Omphalomesenteric cyst
Concept	49041		IgG4-related retroperitoneal fibrosis
Concept	49042		Dentinogenesis imperfecta
Concept	492		Proliferating trichilemmal cyst
Concept	493		Familial keratoacanthoma
Concept	493342		Vibratory urticaria
Concept	49382		Achromatopsia
Concept	494		Keratoderma hereditarium mutilans
Concept	494344		RERE-related neurodevelopmental syndrome
Concept	494418		Vulvar carcinoma
Concept	494421		Sacrococcygeal teratoma
Concept	494424		Extracranial carotid artery aneurysm
Concept	494428		Idiopathic pleuroparenchymal fibroelastosis
Concept	494433		MIRAGE syndrome
Concept	494439		Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Concept	494444		DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Concept	494448		Vulvar squamous cell carcinoma
Concept	494451		Vulvar basal cell carcinoma
Concept	494454		Vulvar adenocarcinoma
Concept	494526		Infantile-onset generalized dyskinesia with orofacial involvement
Concept	494541		Childhood-onset benign chorea with striatal involvement
Concept	494547		Squamous cell carcinoma of the hypopharynx
Concept	494550		Squamous cell carcinoma of the larynx
Concept	495		Transgrediens et progrediens palmoplantar keratoderma
Concept	495274		Charcot-Marie-Tooth disease type 2T
Concept	49566		Acquired purpura fulminans
Concept	495818		9q33.3q34.11 microdeletion syndrome
Concept	495844		C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Concept	495875		Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Concept	495879		Congenital agenesis of the scrotum
Concept	495930		Familial monosomy 7 syndrome
Concept	496641		Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Concept	496686		Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Concept	496689		Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Concept	496693		Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Concept	496751		EVEN-plus syndrome
Concept	496756		Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Concept	496790		Ocular anomalies-axonal neuropathy-developmental delay syndrome
Concept	497188		Diffuse intrinsic pontine glioma
Concept	497737		Epidermolytic nevus
Concept	497757		MME-related autosomal dominant Charcot Marie Tooth disease type 2
Concept	497764		Spinocerebellar ataxia type 43
Concept	497906		Childhood-onset basal ganglia degeneration syndrome
Concept	49804		Lichen amyloidosis
Concept	498228		Phyllodes tumor of the prostate
Concept	498251		Menstrual cycle-dependent periodic fever
Concept	49827		Thiamine-responsive megaloblastic anemia syndrome
Concept	498359		Aquagenic palmoplantar keratoderma
Concept	498474		Hyaline fibromatosis syndrome
Concept	498481		LRP5-related primary osteoporosis
Concept	498485		Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Concept	498488		Overgrowth syndrome with 2q37 translocation
Concept	498494		Mirror-image polydactyly
Concept	498497		Short rib-polydactyly syndrome type 5
Concept	498602		Sugarman brachydactyly
Concept	498693		MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Concept	499		Kerion celsi
Concept	499009		Congenital syphilis
Concept	499085		Chronic relapsing inflammatory optic neuropathy	Chronic relapsing inflammatory optic neuritis
Concept	499096		Isolated optic neuritis
Concept	499103		Recurrent idiopathic neuroretinitis
Concept	499107		Idiopathic optic perineuritis
Concept	499182		Pilomatrix carcinoma
Concept	5		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Concept	50		Aicardi syndrome
Concept	500		Noonan syndrome with multiple lentigines
Concept	500055		Hao-Fountain syndrome due to 16p13.2 microdeletion
Concept	500062		Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Concept	500095		Tall stature-intellectual disability-renal anomalies syndrome
Concept	500135		Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Concept	500144		Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Concept	500150		Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Concept	500159		Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
Concept	500163		Witteveen-Kolk syndrome
Concept	500166		SIN3A-related intellectual disability syndrome due to a point mutation	SIN3-related intellectual disability syndrome due to a point mutation
Concept	500180		Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Concept	500188		X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Concept	500464		Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Concept	500478		Squamous cell carcinoma of the oropharynx
Concept	500481		Squamous cell carcinoma of salivary glands
Concept	500533		Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Concept	500545		Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Concept	500548		Osteosclerotic metaphyseal dysplasia
Concept	501		Lafora disease
Concept	502		Trichorhinophalangeal syndrome type 2
Concept	502305		Cochleovestibular malformation
Concept	502318		Cochlear nerve deficiency
Concept	502363		Squamous cell carcinoma of the oral cavity
Concept	502366		Squamous cell carcinoma of the lip
Concept	502423		Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Concept	502430		Metopic ridging-ptosis-facial dysmorphism syndrome	Weiss-Kruszka Syndrome
Concept	502434		STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Concept	502437		4q25 proximal deletion syndrome
Concept	502444		Alkaline ceramidase 3 deficiency
Concept	502499		Erythema multiforme major
Concept	50251		Pleural mesothelioma
Concept	503		Larsen syndrome
Concept	504		Creeping myiasis
Concept	504476		Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Concept	504523		Severe combined immunodeficiency due to LAT deficiency
Concept	504530		Combined immunodeficiency due to Moesin deficiency
Concept	505		Graham Little-Piccardi-Lassueur syndrome
Concept	505208		3-methylglutaconic aciduria type 8
Concept	505216		3-methylglutaconic aciduria type 9
Concept	505227		Combined immunodeficiency due to GINS1 deficiency
Concept	505237		Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Concept	505242		Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Concept	505248		Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Concept	505395		Ventilator-induced diaphragmatic dysfunction
Concept	505652		CDKL5-deficiency disorder
Concept	506		Leigh syndrome
Concept	506075		Non-functioning neuroendocrine tumor of pancreas
Concept	506090		Serotonin-producing neuroendocrine tumor of pancreas
Concept	506098		Neuroendocrine carcinoma of pancreas
Concept	506112		Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
Concept	506136		Neuroendocrine neoplasm of esophagus
Concept	506307		Stromme syndrome
Concept	506334		Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Concept	506353		Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Concept	506358		Gabriele-de Vries syndrome
Concept	506784		Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Concept	507		Leishmaniasis
Concept	508		Leprechaunism
Concept	50809		Talo-patello-scaphoid osteolysis
Concept	508093		MEPAN syndrome
Concept	50810		Microlissencephaly-micromelia syndrome
Concept	50811		Lipodystrophy-intellectual disability-deafness syndrome
Concept	50812		Zellweger-like syndrome without peroxisomal anomalies
Concept	50814		Craniolenticulosutural dysplasia
Concept	50815		Branchiogenic deafness syndrome
Concept	50817		Duane anomaly-myopathy-scoliosis syndrome
Concept	50839		Cat-scratch disease
Concept	508410		Familial intestinal malrotation
Concept	508476		Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Concept	508488		8q24.3 microdeletion syndrome
Concept	508498		Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Concept	508501		Oral-facial-digital syndrome with short stature and brachymesophalangy
Concept	508512		Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Concept	508523		Hyperphenylalaninemia due to DNAJC12 deficiency
Concept	508529		Intermediate epidermolysis bullosa simplex with cardiomyopathy
Concept	508533		Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Concept	508542		Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Concept	509		Leptospirosis
Concept	50918		Kikuchi-Fujimoto disease
Concept	50942		Striate palmoplantar keratoderma
Concept	50943		Keratolytic winter erythema
Concept	50944		Schöpf-Schulz-Passarge syndrome
Concept	50945		Blomstrand lethal chondrodysplasia
Concept	51		Aicardi-Goutières syndrome
Concept	510		Lesch-Nyhan syndrome
Concept	51083		Familial short QT syndrome
Concept	51084		Torsade-de-pointes syndrome with short coupling interval
Concept	511		Maple syrup urine disease
Concept	51188		Ethylmalonic encephalopathy
Concept	512		Metachromatic leukodystrophy
Concept	512017		Chronic lymphoproliferative disorder of natural killer cells
Concept	51208		Formiminoglutamic aciduria
Concept	512103		Autosomal recessive epidermolytic ichthyosis
Concept	512260		Congenital cerebellar ataxia due to RNU12 mutation
Concept	513436		Autosomal recessive spastic paraplegia type 78
Concept	513456		Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Concept	514		Acute monoblastic/monocytic leukemia
Concept	514352		Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Concept	51608		Generalized arterial calcification of infancy
Concept	51636		WHIM syndrome
Concept	517		Acute myelomonocytic leukemia
Concept	518		Acute megakaryoblastic leukemia
Concept	51890		Anterior cutaneous nerve entrapment syndrome
Concept	519384		Congenital cystic eye
Concept	519386		Isolated congenital entropion
Concept	519388		Autosomal recessive anterior segment dysgenesis
Concept	519390		Isolated blepharochalasis
Concept	519392		Isolated iridoschisis
Concept	519396		Isolated microspherophakia
Concept	519398		Isolated foveal hypoplasia
Concept	519400		Peripapillary staphyloma
Concept	519402		Isolated megalopapilla
Concept	519404		Optic disc pit
Concept	519406		Thygeson superficial punctate keratitis
Concept	519408		Mooren ulcer
Concept	519410		Terrien marginal degeneration
Concept	519930		Fungal keratitis
Concept	52		Alagille syndrome
Concept	520		Acute promyelocytic leukemia
Concept	52022		Potocki-Shaffer syndrome
Concept	52047		Braddock syndrome
Concept	52054		Craniosynostosis-intracranial calcifications syndrome
Concept	52055		Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Concept	52056		Ulnar/fibula ray defect-brachydactyly syndrome
Concept	521		Chronic myeloid leukemia
Concept	521123		Radiation-induced plexopathy
Concept	521127		Osteoradionecrosis of the mandible
Concept	521219		Mirizzi syndrome
Concept	521258		Xq25 microduplication syndrome
Concept	521305		Proximal myopathy with focal depletion of mitochondria
Concept	521308		Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Concept	521390		Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Concept	521406		Dystonia-parkinsonism-hypermanganesemia syndrome
Concept	521411		Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Concept	521414		Autosomal dominant Charcot-Marie-Tooth disease type 2DD
Concept	521426		PLAA-associated neurodevelopmental disorder
Concept	521432		Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Concept	521438		Congenital vertebral-cardiac-renal anomalies syndrome
Concept	521445		Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Concept	521450		LAMA5-related multisystemic syndrome
Concept	522037		Primary autoimmune enteropathy
Concept	522077		Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Concept	523		Hereditary leiomyomatosis and renal cell cancer
Concept	52368		Mohr-Tranebjaerg syndrome
Concept	524		Li-Fraumeni syndrome
Concept	52416		Mantle cell lymphoma
Concept	52417		MALT lymphoma
Concept	52427		Retinitis punctata albescens
Concept	52429		Branchiootic syndrome
Concept	52430		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Concept	525		Lichen planopilaris
Concept	52503		X-linked creatine transporter deficiency
Concept	52530		Pseudo-von Willebrand disease
Concept	525731		Pediatric-onset Graves disease
Concept	525738		Prepubertal anorexia nervosa
Concept	526		Liddle syndrome
Concept	527276		Encephalopathy due to mitochondrial and peroxisomal fission defect
Concept	527450		Severe myopia-generalized joint laxity-short stature syndrome
Concept	527468		Diaphragmatic hernia-short bowel-asplenia syndrome
Concept	527497		NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Concept	528		Congenital generalized lipodystrophy
Concept	528084		Non-specific syndromic intellectual disability
Concept	528091		Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Concept	528105		Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Concept	528623		Hereditary angioedema with C1Inh deficiency
Concept	528647		Hereditary angioedema with normal C1Inh
Concept	528663		Acquired angioedema with C1Inh deficiency
Concept	529		Roch-Leri mesosomatous lipomatosis
Concept	52901		Isolated follicle stimulating hormone deficiency
Concept	529468		Monoclonal mast cell activation syndrome
Concept	529574		Duane retraction syndrome with congenital deafness
Concept	529665		Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Concept	529799		Acute bilirubin encephalopathy
Concept	529808		Chronic bilirubin encephalopathy
Concept	529831		Letrozole toxicity
Concept	529852		Combined hepatocellular carcinoma and cholangiocarcinoma
Concept	529864		Secondary erythromelalgia
Concept	52994		Orbital leiomyoma
Concept	529962		17q24.2 microdeletion syndrome
Concept	529965		Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Concept	529970		Male infertility due to acephalic spermatozoa
Concept	529977		Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Concept	529980		Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
Concept	53		Albers-Schönberg osteopetrosis
Concept	530		Lipoid proteinosis
Concept	530033		Dermoid or epidermoid cyst of the central nervous system
Concept	530298		Progressive myoclonic epilepsy with neuroserpin inclusion bodies
Concept	530303		Progressive dementia with neuroserpin inclusion bodies
Concept	53035		Caroli disease
Concept	530792		RELA fusion-positive ependymoma
Concept	530838		KRT1-related diffuse nonepidermolytic keratoderma
Concept	530849		Familial apolipoprotein A5 deficiency
Concept	530983		Lamb-Shaffer syndrome
Concept	530995		Mixed phenotype acute leukemia
Concept	531		Miller-Dieker syndrome
Concept	531151		9q21.13 microdeletion syndrome
Concept	53271		Muenke syndrome
Concept	53296		Familial cutaneous collagenoma
Concept	533		Listeriosis
Concept	53347		Brody myopathy
Concept	53351		X-linked dystonia-parkinsonism
Concept	53372		Hereditary geniospasm
Concept	534		Oculocerebrorenal syndrome of Lowe
Concept	53540		Goldmann-Favre syndrome
Concept	535453		Familial lipase maturation factor 1 deficiency
Concept	535458		Familial GPIHBP1 deficiency
Concept	53583		Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Concept	536		Systemic lupus erythematosus
Concept	536467		B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Concept	536471		Spondylodysplastic Ehlers-Danlos syndrome
Concept	536516		Myopathic Ehlers-Danlos syndrome
Concept	536532		Classical-like Ehlers-Danlos syndrome type 2
Concept	536545		Kyphoscoliotic Ehlers-Danlos syndrome
Concept	53689		Congenital chloride diarrhea
Concept	53690		Congenital lactase deficiency
Concept	53691		Congenital cornea plana
Concept	53693		GRACILE syndrome
Concept	53696		Arthrogryposis-anterior horn cell disease syndrome
Concept	53697		Gnathodiaphyseal dysplasia
Concept	53698		Myosin storage myopathy
Concept	537		Toxic epidermal necrolysis
Concept	537072		PLG-related hereditary angioedema with normal C1Inh
Concept	53715		Familial tumoral calcinosis
Concept	53719		Wyburn-Mason syndrome
Concept	53721		Spinal arteriovenous metameric syndrome
Concept	538		Lymphangioleiomyomatosis
Concept	538096		Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
Concept	538101		Congenital axonal neuropathy with encephalopathy
Concept	538574		Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Concept	538756		Familial multiple discoid fibromas
Concept	538863		Classic pyoderma gangrenosum
Concept	538866		Pustular pyoderma gangrenosum
Concept	538869		Bullous pyoderma gangrenosum
Concept	538872		Vegetative pyoderma gangrenosum
Concept	538931		X-linked lymphoproliferative disease due to SH2D1A deficiency	X-linked lymphoproliferative disease due to SAP deficiency
Concept	538934		X-linked lymphoproliferative disease due to XIAP deficiency
Concept	538958		Combined immunodeficiency due to CD70 deficiency
Concept	538963		Combined immunodeficiency due to ITK deficiency
Concept	54		X-linked recessive ocular albinism
Concept	540		Familial hemophagocytic lymphohistiocytosis
Concept	54028		Plummer-Vinson syndrome
Concept	54057		Thrombotic thrombocytopenic purpura
Concept	541423		Growth delay-intellectual disability-hepatopathy syndrome
Concept	541443		Anomalous aortic origin of the left coronary artery
Concept	541454		Anomalous aortic origin of the right coronary artery
Concept	541507		Anomalous origin of coronary artery from the pulmonary artery
Concept	542301		Combined immunodeficiency due to CARMIL2 deficiency
Concept	542306		GNB5-related intellectual disability-cardiac arrhythmia syndrome
Concept	542310		Leukoencephalopathy with calcifications and cysts
Concept	542323		CAR T cell therapy-associated cytokine release syndrome
Concept	54247		Posterior cortical atrophy
Concept	54251		Corticosteroid-sensitive aseptic abscess syndrome	Aseptic abscess syndrome
Concept	542568		Quadricuspid aortic valve
Concept	542585		Auditory neuropathy-optic atrophy syndrome
Concept	542592		Necrobiosis lipoidica
Concept	54260		Left ventricular noncompaction
Concept	542643		Livedoid vasculopathy
Concept	542657		Isolated hyperchlorhidrosis
Concept	54272		Hepatocellular adenoma
Concept	543		Burkitt lymphoma
Concept	543470		Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Concept	54368		Sarcocystosis
Concept	54370		Primary membranoproliferative glomerulonephritis
Concept	544254		SYNGAP1-related developmental and epileptic encephalopathy
Concept	544469		PRUNE1-related neurological syndrome
Concept	544472		Atypical hemolytic uremic syndrome with complement gene abnormality
Concept	544482		Infection-related hemolytic uremic syndrome
Concept	544488		Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Concept	544493		Streptococcus pneumoniae-associated hemolytic uremic syndrome
Concept	544503		RNF13-related severe early-onset epileptic encephalopathy
Concept	544578		Congenital primary megaureter, refluxing and obstructed form
Concept	544602		Congenital myopathy with reduced type 2 muscle fibers
Concept	544628		Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Concept	545		Follicular lymphoma
Concept	54595		Craniopharyngioma
Concept	548		Leprosy
Concept	549		Legionnaires disease
Concept	550		MELAS
Concept	551		MERRF
Concept	552		MODY
Concept	555402		NAD(P)HX dehydratase deficiency
Concept	555407		NAD(P)HX epimerase deficiency
Concept	555434		Fibrohistiocytic inflammatory pseudotumor of the liver
Concept	555437		Lymphoplasmacytic inflammatory pseudotumor of the liver
Concept	555874		Congenital tricuspid valve dysplasia
Concept	555877		FLNA-related X-linked myxomatous valvular dysplasia
Concept	555905		IgA pemphigus
Concept	55595		TNP03-related limb-girdle muscular dystrophy D2
Concept	55596		HNRNPDL-related limb-girdle muscular dystrophy D3
Concept	556		Malakoplakia
Concept	556030		Early-onset familial hypoaldosteronism
Concept	556037		Late-onset familial hypoaldosteronism
Concept	55654		Hypotrichosis simplex
Concept	55655		Pneumococcal meningitis
Concept	556955		Pancreatic agenesis-holoprosencephaly syndrome
Concept	556985		Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Concept	557003		Oculoskeletodental syndrome
Concept	557056		Spastic ataxia-dysarthria due to glutaminase deficiency
Concept	557064		Neonatal epileptic encephalopathy due to glutaminase deficiency
Concept	558		Marfan syndrome
Concept	558411		Idiopathic gastroparesis
Concept	55880		Chondrosarcoma
Concept	55881		Adamantinoma
Concept	559		Marinesco-Sjögren syndrome
Concept	56		Alkaptonuria
Concept	560		Marshall syndrome
Concept	561		Marshall-Smith syndrome
Concept	561854		FOXG1 syndrome
Concept	562		McCune-Albright syndrome
Concept	562509		Heme oxygenase-1 deficiency
Concept	562528		Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Concept	562538		Autosomal recessive extra-oral halitosis
Concept	562559		Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Concept	562569		TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Concept	562639		Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Concept	563		Peripartum cardiomyopathy
Concept	56304		Atelosteogenesis type II
Concept	56305		Atelosteogenesis type III
Concept	563576		Autoimmune hepatitis type 1
Concept	563581		Autoimmune hepatitis type 2
Concept	563589		Seronegative autoimmune hepatitis
Concept	563609		Isolated anencephaly
Concept	563612		Isolated exencephaly
Concept	563666		Serous cystadenoma of childhood
Concept	563671		Mucinous cystadenoma of childhood
Concept	563676		Seromucinous cystadenoma of childhood
Concept	563684		Furuncular myiasis due to Dermatobia hominis
Concept	563687		Furuncular myiasis due to Cordylobia anthropophaga
Concept	563690		Furuncular myiasis due to Cordylobia rodhaini
Concept	563708		Syndromic congenital sodium diarrhea
Concept	563951		Isolated congenital aglossia
Concept	563954		Isolated congenital hypoglossia
Concept	563991		Osteochondrosis of the tarsal bone
Concept	564		Meckel syndrome
Concept	564003		Osteochondrosis of the metatarsal bone
Concept	564178		Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Concept	56425		Cold agglutinin disease
Concept	565		Menkes disease
Concept	565612		Primary triglyceride deposit cardiomyovasculopathy
Concept	565624		Combined oxidative phosphorylation defect type 39
Concept	565641		Primary desmosis coli
Concept	565782		Methotrexate toxicity
Concept	565788		Infantile inflammatory bowel disease with neurological involvement
Concept	565837		Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
Concept	565858		Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Concept	565899		POMGNT2-related limb-girdle muscular dystrophy R24
Concept	565909		Calpain-3-related limb-girdle muscular dystrophy D4
Concept	566		Congenital microcoria
Concept	566067		CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Concept	566175		Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Concept	566192		Congenital autosomal recessive small-platelet thrombocytopenia
Concept	566231		Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Concept	566243		Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Concept	566393		Acute mast cell leukemia
Concept	566396		Chronic mast cell leukemia
Concept	566841		Liver adenomatosis
Concept	566847		Aprosencephaly/atelencephaly spectrum
Concept	566852		Atelencephaly
Concept	566857		Aprosencephaly
Concept	566862		Left sided atrial isomerism
Concept	566943		Mueller-Weiss syndrome
Concept	567		22q11.2 deletion syndrome
Concept	567502		B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Concept	567544		Idiopathic non-lupus full-house nephropathy
Concept	567546		Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Concept	567548		Idiopathic steroid-resistant nephrotic syndrome
Concept	567550		Idiopathic multidrug-resistant nephrotic syndrome
Concept	567552		Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
Concept	567983		Parenteral nutrition-associated cholestasis
Concept	568		Microphthalmia, Lenz type
Concept	568051		GJC2-related late-onset primary lymphedema
Concept	568056		Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Concept	568062		PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
Concept	568065		EPHB4-related lymphatic-related hydrops fetalis
Concept	569		Familial or sporadic hemiplegic migraine
Concept	569164		Angiomatoid fibrous histiocytoma
Concept	569248		Microcystic stromal tumor
Concept	569274		Multiple mitochondrial dysfunctions syndrome type 5
Concept	569290		Multiple mitochondrial dysfunctions syndrome type 6
Concept	569816		CELSR1-related late-onset primary lymphedema
Concept	569821		Congenital primary lymphedema of Gordon
Concept	57		Glycogen storage disease due to aldolase A deficiency
Concept	570		Moebius syndrome
Concept	570371		Bartter syndrome type 5
Concept	570422		Galactose mutarotase deficiency
Concept	570431		Idiopathic multicentric Castleman disease
Concept	570438		HHV-8-associated multicentric Castleman disease
Concept	570470		Ricin poisoning
Concept	570491		QRSL1-related combined oxidative phosphorylation defect
Concept	570762		Infective endocarditis
Concept	57145		SUNCT syndrome
Concept	57196		Medial condensing osteitis of the clavicle
Concept	572		Immunodeficiency by defective expression of MHC class II
Concept	572013		Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Concept	572333		Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Concept	572354		Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Concept	572361		Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Concept	572385		Brachydactyly type B1
Concept	572428		Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Concept	572543		RFVT2-related riboflavin transporter deficiency
Concept	572550		RFVT3-related riboflavin transporter deficiency
Concept	572761		DONSON-related microcephaly-short stature-limb abnormalities spectrum
Concept	572768		Microcephaly-micromelia syndrome
Concept	572773		Microcephaly-short stature-limb abnormalities syndrome
Concept	572798		WARS2-related combined oxidative phosphorylation defect
Concept	573		Monilethrix
Concept	573253		Split cord malformation type II
Concept	574		21q deletion syndrome
Concept	574918		Predisposition to severe viral infection due to IRF7 deficiency
Concept	574957		Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Concept	575		Muckle-Wells syndrome
Concept	575553		Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
Concept	576		Mucolipidosis type II
Concept	576074		Middle East respiratory syndrome
Concept	576227		Complete atrioventricular septal defect without ventricular hypoplasia
Concept	576232		Partial atrioventricular septal defect with ventricular hypoplasia
Concept	576235		Partial atrioventricular septal defect without ventricular hypoplasia
Concept	576242		Intermediate atrioventricular septal defect
Concept	576278		SATB2-associated syndrome
Concept	576283		SATB2-associated syndrome due to a pathogenic variant
Concept	576349		NLRC4-related familial cold autoinflammatory syndrome
Concept	576370		Variant Creutzfeldt-Jakob disease
Concept	576379		Iatrogenic Creutzfeldt-Jakob disease
Concept	577		Mucolipidosis type III
Concept	57777		Cirrhotic cardiomyopathy
Concept	57782		Mazabraud syndrome
Concept	578		Mucolipidosis type IV
Concept	579		Mucopolysaccharidosis type 1
Concept	58		Alexander disease
Concept	580		Mucopolysaccharidosis type 2
Concept	58017		Classic hairy cell leukemia
Concept	58040		Osteoblastoma
Concept	580572		Intraductal tubulopapillary neoplasm of pancreas
Concept	580933		Lethal brain and heart developmental defects
Concept	580940		QRICH1-related intellectual disability-chondrodysplasia syndrome
Concept	580951		Punctate inner choroidopathy
Concept	581		Mucopolysaccharidosis type 3
Concept	581271		Cramp-fasciculation syndrome
Concept	582		Mucopolysaccharidosis type 4
Concept	583		Mucopolysaccharidosis type 6
Concept	583097		Congenital infiltrating lipomatosis of the face
Concept	583595		Serine biosynthesis pathway deficiency, infantile/juvenile form
Concept	583602		Neu-laxova syndrome due to phosphoserine aminotransferase deficiency	Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Concept	583607		Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Concept	583612		Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency	Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Concept	583856		Isolated splenic vein thrombosis
Concept	583861		Isolated mesenteric vein thrombosis
Concept	584		Mucopolysaccharidosis type 7
Concept	585		Multiple sulfatase deficiency
Concept	585867		Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
Concept	585877		B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
Concept	585909		B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Concept	585918		B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Concept	585929		B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
Concept	585936		B-lymphoblastic leukemia/lymphoma with hyperdiploidy
Concept	585942		B-lymphoblastic leukemia/lymphoma with hypodiploidy
Concept	585948		B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
Concept	585956		B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Concept	586		Cystic fibrosis
Concept	586130		Sporadic fatal insomnia
Concept	587		Version: Muir-Torre syndrome		Removed this Concept
Concept	588		Muscle-eye-brain disease
Concept	589		Myasthenia gravis
Concept	589435		Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Concept	589442		Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Concept	589515		PUM1-associated developmental disability-ataxia-seizure syndrome
Concept	589522		Spinocerebellar ataxia type 46
Concept	589527		Spinocerebellar ataxia type 45
Concept	589534		Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Concept	589542		Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
Concept	589547		GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Concept	589595		Mixed phenotype acute leukemia with t(v;11q23.3)
Concept	589608		Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Concept	589618		Dystonia 28
Concept	589821		Congenital-onset Steinert myotonic dystrophy
Concept	589824		Childhood-onset Steinert myotonic dystrophy
Concept	589827		Juvenile-onset Steinert myotonic dystrophy
Concept	589830		Adult-onset Steinert myotonic dystrophy
Concept	589833		Late-onset Steinert myotonic dystrophy
Concept	589856		Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Concept	589905		PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Concept	59		Allan-Herndon-Dudley syndrome
Concept	590		Congenital myasthenic syndrome
Concept	590539		Isolated melanotic schwannoma
Concept	591		Furuncular myiasis
Concept	59135		Laing early-onset distal myopathy
Concept	59181		Sorsby pseudoinflammatory fundus dystrophy
Concept	592		Macrophagic myofasciitis
Concept	592564		GNAO1-related developmental delay-seizures-movement disorder spectrum
Concept	592570		TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Concept	592574		Menke-Hennekam syndrome
Concept	592850		Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
Concept	592856		Neuromyelitis optica spectrum disorder with anti-MOG antibodies
Concept	592869		Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
Concept	592873		Acute transverse myelitis with anti-MOG antibodies
Concept	592885		Version: Isolated optic neuritis without anti-MOG antibodies		Removed this Concept
Concept	592888		Version: Isolated optic neuritis with anti-MOG antibodies		Removed this Concept
Concept	592894		Acute disseminated encephalomyelitis with anti-MOG antibodies
Concept	592900		Acute disseminated encephalomyelitis without anti-MOG antibodies
Concept	59298		Schilder disease
Concept	59303		Neonatal ichthyosis-sclerosing cholangitis syndrome
Concept	59306		McLeod neuroacanthocytosis syndrome
Concept	59315		Rhombencephalosynapsis
Concept	595098		Timothy syndrome type 1
Concept	595105		Timothy syndrome type 2
Concept	595109		Atypical Timothy syndrome
Concept	595133		Perivascular epithelioid cell neoplasm
Concept	595356		Localized dystrophic epidermolysis bullosa
Concept	596		X-linked centronuclear myopathy
Concept	596008		Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Concept	596448		IgG4-related systemic disease
Concept	596753		VEXAS syndrome
Concept	596759		Combined immunodeficiency due to RELA haploinsufficiency
Concept	596937		Portosinusoidal vascular disease
Concept	596941		Incomplete septal cirrhosis
Concept	597		Central core disease
Concept	597201		TRIM22-related inflammatory bowel disease
Concept	597623		IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
Concept	597733		Oculocutaneous albinism type 8
Concept	597738		Luscan-Lumish syndrome
Concept	597743		SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Concept	597746		Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Concept	597874		MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Concept	597887		ALPI-related inflammatory bowel disease
Concept	597939		Euthyroid dysprealbuminemic hyperthyroxinemia
Concept	598		Multiminicore myopathy
Concept	598164		FOXG1 syndrome due to intragenic alteration
Concept	598216		Upper tract urothelial carcinoma
Concept	598363		Multisystem inflammatory syndrome in children and adults
Concept	598603		Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
Concept	599082		CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Concept	599373		STXBP1-related encephalopathy
Concept	599376		Hypomyelination of early myelinating structures
Concept	599418		Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
Concept	599480		Acquired hemophilia A
Concept	599485		Acquired hemophilia B
Concept	599490		Acquired factor V deficiency
Concept	599495		Acquired factor VII deficiency
Concept	599501		Acquired factor X deficiency
Concept	599507		Acquired factor XI deficiency
Concept	599513		Acquired factor XIII deficiency
Concept	599519		Factor V short isoforms-related bleeding disorder
Concept	599579		Factor V Amsterdam bleeding disorder
Concept	6		3-methylcrotonyl-CoA carboxylase deficiency
Concept	60		Alpha-1-antitrypsin deficiency
Concept	600		Vocal cord and pharyngeal distal myopathy
Concept	60014		Argyria
Concept	60015		Enlarged parietal foramina
Concept	600194		Factor V Atlanta bleeding disorder
Concept	60025		Pulmonary alveolar microlithiasis
Concept	60026		Pulmonary nodular lymphoid hyperplasia
Concept	60030		Loeys-Dietz syndrome
Concept	60032		Recurrent respiratory papillomatosis
Concept	60033		Idiopathic bronchiectasis
Concept	60039		Pudendal neuralgia	Pudendal nerve entrapment syndrome
Concept	60040		Megalencephaly-capillary malformation-polymicrogyria syndrome
Concept	60041		Congenital heart block
Concept	600663		NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
Concept	600668		CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
Concept	600691		Combined deficiency of factor VII and factor X
Concept	600731		Clark-Baraitser syndrome
Concept	600952		Non-syndromic anorectal malformation with perineal fistula
Concept	600961		Non-syndromic anorectal malformation with rectourethral fistula
Concept	600966		Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
Concept	600975		Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
Concept	600984		Non-syndromic anorectal malformation with rectovesical fistula
Concept	600993		Non-syndromic anorectal malformation with vestibular fistula
Concept	600998		Non-syndromic cloacal malformation
Concept	601002		Non-syndromic anorectal malformation without fistula
Concept	601008		Non-syndromic anorectal malformation with anal stenosis
Concept	601013		Non-syndromic anorectal malformation with pouch colon
Concept	601018		Non-syndromic anorectal malformation with rectal atresia
Concept	601023		Non-syndromic anorectal malformation with rectal stenosis
Concept	601028		Non-syndromic anorectal malformation with rectovaginal fistula
Concept	601033		Non-syndromic anorectal malformation with H-type fistula
Concept	602		GNE myopathy
Concept	603		Distal myopathy, Welander type
Concept	603448		Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Concept	603494		Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Concept	603515		Isolated female hypospadias
Concept	603684		KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Concept	603689		KLHL7-related Bohring-Opitz-like syndrome
Concept	603694		KLHL7-related Crisponi/cold-induced sweating-like syndrome
Concept	604680		Symptomatic form of X-linked centronuclear myopathy in female carriers
Concept	606		Proximal myotonic myopathy
Concept	609		Tibial muscular dystrophy
Concept	61		Alpha-mannosidosis
Concept	610		Bethlem myopathy	Bethlem muscular dystrophy
Concept	610569		KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Concept	610573		CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Concept	611		Inclusion body myositis
Concept	611201		Oculogastrointestinal-neurodevelopmental syndrome
Concept	611207		Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Concept	611216		Aplastic anemia-intellectual disability-dwarfism syndrome
Concept	611223		EN1-related dorsoventral syndrome
Concept	611237		Parkinsonism with polyneuropathy
Concept	611247		Pontocerebellar hypoplasia type 11
Concept	611256		Pontocerebellar hypoplasia type 12
Concept	613267		Pontocerebellar hypoplasia type 13
Concept	613274		Pontocerebellar hypoplasia type 14
Concept	614		Thomsen and Becker disease
Concept	615		Familial atrial myxoma
Concept	615938		Spastic paraparesis-cataracts-speech delay syndrome
Concept	615943		Granuloma faciale
Concept	615954		Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Concept	615964		Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Concept	615970		Chronic intervillositis of unknown etiology
Concept	615983		Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
Concept	615986		Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Concept	616		Medulloblastoma
Concept	616874		Rare disorder without a determined diagnosis after full investigation
Concept	617		Congenital primary megaureter
Concept	617294		Twin anemia-polycythemia sequence
Concept	617297		Twin-reversed arterial perfusion sequence
Concept	617301		Selective intrauterine growth restriction
Concept	617304		Amniotic fluid embolism
Concept	617408		Classic eosinophilic pustular folliculitis
Concept	617440		Painful legs and moving toes syndrome
Concept	617449		Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
Concept	617910		Conjunctival malignant melanoma
Concept	617916		Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Concept	617919		F12-associated cold autoinflammatory syndrome
Concept	617930		Hemophilia B Leyden
Concept	618		Familial melanoma
Concept	618891		Chronic neurovisceral acid sphingomyelinase deficiency
Concept	619233		Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Concept	619363		Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18	NOCARH syndrome
Concept	619367		SAMD9L-associated autoinflammatory syndrome
Concept	619941		Immune deficiency due to impaired neutrophil phagocytosis and migration	Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Concept	619948		Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
Concept	619953		Familial hyperinflammatory lymphoproliferative immunodeficiency
Concept	619972		CADINS disease
Concept	619979		Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Concept	62		Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Concept	620102		Non-syndromic unicoronal craniosynostosis
Concept	620113		Non-syndromic unilambdoid craniosynostosis
Concept	620139		Non-syndromic unifrontosphenoidal craniosynostosis
Concept	620146		Non-syndromic unisquamosal craniosynostosis
Concept	620158		Non-syndromic non-specific multisutural craniosynostosis
Concept	620178		Non-syndromic bilambdoid craniosynostosis
Concept	620186		Non-syndromic unicoronal and sagittal craniosynostosis
Concept	620192		Non-syndromic metopic and sagittal craniosynostosis
Concept	620198		Non-syndromic bicoronal and metopic craniosynostosis
Concept	620205		Non-syndromic bicoronal and sagittal craniosynostosis
Concept	620212		Non-syndromic pansynostosis
Concept	620217		Bartter syndrome type 1
Concept	620220		Bartter syndrome type 2
Concept	620363		Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Concept	620368		EGF-related primary hypomagnesemia with intellectual disability
Concept	620371		Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Concept	621		Hereditary methemoglobinemia
Concept	621758		Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Concept	622		Homocystinuria without methylmalonic aciduria
Concept	622099		Superior mesenteric artery syndrome
Concept	622925		X-linked severe syndromic thoracic aortic aneurysm and dissection
Concept	622934		SBDS-related severe neonatal spondylometaphyseal dysplasia
Concept	623615		Autoimmune limbic encephalitis
Concept	623626		Paraneoplastic cerebellar degeneration
Concept	623695		MIR140-related spondyloepiphyseal dysplasia
Concept	623789		Body integrity dysphoria
Concept	623801		Acute flaccid myelitis
Concept	624		Familial multiple nevi flammei
Concept	624166		Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
Concept	624178		Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
Concept	624190		Paraneoplastic isolated brainstem encephalitis
Concept	624199		Non-specific autoimmune brainstem encephalitis with characteristic antibodies
Concept	624216		Non-specific autoimmune brainstem encephalitis without characteristic antibodies
Concept	624244		Postinfectious cerebellitis
Concept	624259		Non-specific autoimmune cerebellar ataxia with characteristic antibodies
Concept	624268		Non-specific autoimmune cerebellar ataxia without characteristic antibodies
Concept	626		Large congenital melanocytic nevus
Concept	627		Nance-Horan syndrome
Concept	628		Diastrophic dysplasia
Concept	629		Short stature due to growth hormone qualitative anomaly
Concept	63		Alport syndrome
Concept	631		Non-acquired isolated growth hormone deficiency
Concept	631068		Autosomal dominant spastic paraplegia type 80
Concept	631073		Autosomal recessive spastic paraplegia type 82
Concept	631076		Autosomal recessive spastic paraplegia type 83
Concept	631079		Autosomal recessive spastic paraplegia type 84
Concept	631082		Autosomal recessive spastic paraplegia type 85
Concept	631085		Autosomal recessive spastic paraplegia type 86
Concept	631088		Autosomal recessive spastic paraplegia type 87
Concept	631095		Spinocerebellar ataxia type 44
Concept	631103		Spinocerebellar ataxia type 48
Concept	631106		Spinocerebellar ataxia type 49
Concept	631248		Mitchell Syndrome
Concept	631251		Cancer of unknown primary site
Concept	632		Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Concept	63259		Iniencephaly
Concept	63260		Craniorachischisis
Concept	632603		Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Concept	63269		Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Concept	63273		Distal myopathy with posterior leg and anterior hand involvement
Concept	63275		Pemphigoid gestationis
Concept	633		Laron syndrome
Concept	633004		KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Concept	633014		SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
Concept	633021		SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
Concept	633024		SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
Concept	633028		CPE-related Prader-Willi-like syndrome
Concept	633035		Intellectual disability-early-onset cataract-microcephaly syndrome
Concept	633076		Split cord malformation, composite type
Concept	633099		PAICS deficiency
Concept	633124		Invasive scopulariopsis infection
Concept	633211		Preaxial digit brachydactyly-webbed fingers
Concept	633228		Proximal femoral focal deficiency	Isolated proximal femoral focal deficiency
Concept	634		Netherton syndrome
Concept	63442		Angel-shaped phalango-epiphyseal dysplasia
Concept	63446		Acrocapitofemoral dysplasia
Concept	634461		Mosaic neurofibromatosis type 1
Concept	634475		Mosaic NF2-related schwannomatosis
Concept	634492		Mosaic schwannomatosis
Concept	634511		Mosaic Legius syndrome
Concept	63455		Paraneoplastic pemphigus
Concept	635		Neuroblastoma
Concept	636		Neurofibromatosis type 1
Concept	636941		Vascular Ehlers-Danlos-polymicrogyria syndrome
Concept	636945		Invasive Candidiasis	Invasive candidiasis
Concept	636950		Glaucomatocyclitic crisis disease
Concept	636955		Endemic pemphigus foliaceus
Concept	636965		Autosomal dominant myosin storage myopathy
Concept	636970		Autosomal recessive myosin storage myopathy
Concept	637		Full NF2-related schwannomatosis
Concept	637013		SMARCA2-related blepharophimosis-intellectual disability syndrome
Concept	637051		Borna virus encephalitis
Concept	637061		Isolated optic nerve hypoplasia
Concept	637064		Isolated optic nerve aplasia
Concept	638		Neurofibromatosis-Noonan syndrome
Concept	63862		Schisis association
Concept	639		Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
Concept	63999		IgG4-related mediastinitis
Concept	64		Alström syndrome
Concept	640		Hereditary neuropathy with liability to pressure palsies
Concept	641		Multifocal motor neuropathy
Concept	641350		Immunotherapy induced hypophysitis
Concept	641353		Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
Concept	641361		Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Concept	641368		Autosomal recessive hyper-IgE syndrome	Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Concept	641372		B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
Concept	641375		B-lymphoblastic leukemia/lymphoma with t(17;19)
Concept	641380		PAPASH syndrome
Concept	641385		PASS syndrome
Concept	641390		PsAPASH syndrome
Concept	641396		Central nervous system tuberculosis
Concept	641496		Childhood-onset schizophrenia
Concept	641829		Neonatal compartment syndrome
Concept	642		Hereditary sensory and autonomic neuropathy type 4
Concept	642071		Primary pulmonary vein stenosis
Concept	642085		Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type	EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
Concept	642099		Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Concept	642671		Familial hyperaldosteronism type IV
Concept	642675		CHD8 overgrowth syndrome
Concept	642691		Fragile X-associated primary ovarian insufficiency
Concept	642747		PUM1-related cerebellar ataxia
Concept	642763		Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
Concept	642788		Cushing syndrome due to cortisol-producing adrenocortical adenoma
Concept	64280		Childhood absence epilepsy
Concept	642945		Perrault syndrome type 1
Concept	642954		Autosomal recessive ataxia due to PEX16 deficiency
Concept	642965		Autosomal recessive ataxia due to PEX2 deficiency
Concept	642976		Perrault syndrome type 2
Concept	643		Giant axonal neuropathy
Concept	643503		Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
Concept	643538		Hao-Fountain syndrome due to USP7 mutation
Concept	643549		Hao-Fountain syndrome
Concept	644		NARP syndrome
Concept	645188		Spinal dermal sinus
Concept	645285		Chaotic conus spinal cord lipoma
Concept	645288		Terminal extramedullary conus spinal cord lipoma
Concept	645291		Transitional extramedullary conus spinal cord lipoma
Concept	645294		Posterior extramedullary conus spinal cord lipoma
Concept	645297		Extramedullary conus spinal cord lipoma
Concept	645300		Lipomatous non-saccular limited dorsal myeloschisis
Concept	645310		Fibroneural non-saccular limited dorsal myeloschisis
Concept	645322		Isolated transitional filum lipoma
Concept	645325		Isolated filum lipoma
Concept	645334		Retained medullary cord
Concept	645337		Terminal myelocystocele
Concept	645340		Non-terminal myelocystocele
Concept	645343		Non-saccular limited dorsal myeloschisis
Concept	645350		Segmental arterial mediolysis
Concept	645354		Saccular limited dorsal myeloschisis
Concept	645359		Intramedullary non-dysraphic spinal cord lipoma
Concept	645362		Dorsal spinal cord lipoma
Concept	645378		Myelic limited dorsal malformation
Concept	645383		True myelomeningocele
Concept	645388		Hemi-myelomeningocele
Concept	645393		Hemi-myeloschisis
Concept	645398		Myeloschisis
Concept	645401		True myeloschisis
Concept	64542		Acrofacial dysostosis, Kennedy-Teebi type
Concept	64545		Benign idiopathic neonatal seizures
Concept	645613		Classical dermatomyositis
Concept	645617		Amyopathic dermatomyositis
Concept	645626		Adermatopathic dermatomyositis
Concept	645749		Congenital esophageal stenosis
Concept	645793		Spontaneous intestinal perforation
Concept	645807		Primary tuberculous lymphadenitis
Concept	645814		Primary pulmonary tuberculosis
Concept	645822		Primary bone and joint tuberculosis
Concept	645849		Primary cutaneous tuberculosis
Concept	645854		Multifocal tuberculosis
Concept	645859		Primary tuberculosis of the digestive system
Concept	645874		Primary genito-urinary tuberculosis
Concept	646		Niemann-Pick disease type C
Concept	646113		Intermediate collagen VI-related muscular dystrophy
Concept	646136		Dysplastic cortical hyperostosis, Al-Gazali type
Concept	646139		Dysplastic cortical hyperostosis
Concept	646278		CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome	CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
Concept	64686		Tolosa-Hunt syndrome
Concept	64692		Oroya fever	Bartonella bacilliformis infection
Concept	64694		Trench fever
Concept	647		Nijmegen breakage syndrome
Concept	64720		Leiomyosarcoma
Concept	64722		Granulomatous mastitis
Concept	64734		Iridocorneal endothelial syndrome
Concept	64739		Ovarian hyperstimulation syndrome
Concept	64741		Pulmonary blastoma
Concept	64742		Pleuropulmonary blastoma
Concept	64743		Hepatoportal sclerosis
Concept	64744		IgG4-related thyroid disease
Concept	64745		Pruritic urticarial papules and plaques of pregnancy
Concept	64748		Dejerine-Sottas syndrome
Concept	64751		Hereditary motor and sensory neuropathy type 5
Concept	64752		Hereditary sensory and autonomic neuropathy type 5
Concept	64753		Spinocerebellar ataxia with axonal neuropathy type 2
Concept	64754		Nevus comedonicus syndrome
Concept	64755		Becker nevus syndrome
Concept	647667		Mandibuloacral dysplasia associated to MTX2
Concept	647676		Multiple epiphyseal dysplasia type 7
Concept	647681		Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Concept	647772		Isolated primary pigmented nodular adrenocortical disease
Concept	647782		Isolated micronodular adrenocortical disease
Concept	647788		Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
Concept	647794		Isolated persistent urogenital sinus
Concept	647799		MYT1L-related developmental delay-intellectual disability-obesity syndrome
Concept	647804		Combined immunodeficiency due to FCHO1 deficiency
Concept	647811		Cardiac-urogenital syndrome
Concept	647815		Keratoendotheliitis fugax hereditaria	Keratitis fugax hereditaria
Concept	647823		Idiopathic pregnancy-associated osteoporosis
Concept	647834		SLC40A1-related hemochromatosis
Concept	647916		Conjoined twins
Concept	648		Noonan syndrome
Concept	648562		Ferroportin Disease	Ferroportin disease
Concept	648581		Digenic hemochromatosis
Concept	648665		Infectious scleritis
Concept	648675		Idiopathic scleritis
Concept	648681		Immune-mediated scleritis
Concept	648684		Central retinal artery occlusion
Concept	648919		Idiopathic catatonia
Concept	648992		Non-syndromic bridging bronchus
Concept	649		Norrie disease
Concept	649010		Non-syndromic congenital bronchial atresia
Concept	649029		Isolated left bronchial isomerism
Concept	65		Leber congenital amaurosis
Concept	650		LCAT deficiency
Concept	650077		Genetic central precocious puberty in female
Concept	650082		Secondary central precocious puberty in female
Concept	650087		Primary central precocious puberty in male
Concept	650092		Secondary central precocious puberty in male
Concept	650097		Genetic central precocious puberty in male
Concept	650102		Non-genetic central precocious puberty in male
Concept	652		Multiple endocrine neoplasia type 1
Concept	65250		Version: Perineural cyst		Removed this Concept
Concept	65282		Carvajal syndrome
Concept	65283		Timothy syndrome
Concept	65284		Biotin-thiamine-responsive basal ganglia disease
Concept	65285		Lhermitte-Duclos disease
Concept	65286		3q29 microdeletion syndrome
Concept	65287		Beta-ureidopropionase deficiency
Concept	65288		Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Concept	653		Multiple endocrine neoplasia type 2
Concept	654		Nephroblastoma
Concept	655		Nephronophthisis
Concept	656		Genetic steroid-resistant nephrotic syndrome
Concept	65681		Vaginal atresia
Concept	65682		Benign recurrent intrahepatic cholestasis
Concept	65683		Isolated focal cortical dysplasia
Concept	65684		Monomelic amyotrophy
Concept	65720		Arthrogryposis-severe scoliosis syndrome
Concept	65743		Autosomal dominant multiple pterygium syndrome
Concept	65748		Multiple self-healing squamous epithelioma
Concept	65759		Carpenter syndrome
Concept	65798		Version: Goodman syndrome		Removed this Concept
Concept	659		Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Concept	660		Omphalocele
Concept	661		Congenital central hypoventilation syndrome
Concept	662		Yellow nail syndrome
Concept	663		Mitochondrial DNA-related progressive external ophthalmoplegia
Concept	664		Ornithine transcarbamylase deficiency
Concept	66518		Short fifth metacarpals-insulin resistance syndrome
Concept	66529		Tako-Tsubo cardiomyopathy
Concept	666		Osteogenesis imperfecta
Concept	66624		PANDAS
Concept	66625		Cerebrooculonasal syndrome
Concept	66627		Tenosynovial giant cell tumor
Concept	66628		Obesity due to congenital leptin deficiency
Concept	66629		Goldberg-Shprintzen megacolon syndrome
Concept	66630		Congenital pseudoarthrosis of the clavicle
Concept	66631		CEDNIK syndrome
Concept	66633		Sensorineural hearing loss-early graying-essential tremor syndrome
Concept	66634		Dilated cardiomyopathy with ataxia
Concept	66637		Diaphanospondylodysostosis
Concept	66661		Mast cell sarcoma
Concept	66662		Extracutaneous mastocytoma
Concept	667		Autosomal recessive malignant osteopetrosis
Concept	668		Osteosarcoma
Concept	67		Amoebiasis due to Entamoeba histolytica
Concept	67036		Autosomal dominant optic atrophy and cataract
Concept	67038		B-cell chronic lymphocytic leukemia
Concept	67039		Segmental odontomaxillary dysplasia
Concept	67041		Hyaluronidase deficiency
Concept	67042		Late-onset retinal degeneration
Concept	67043		Amoebic keratitis
Concept	67044		Thrombocytopenia with congenital dyserythropoietic anemia
Concept	67045		X-linked intellectual disability with isolated growth hormone deficiency
Concept	67046		3-methylglutaconic aciduria type 1
Concept	67047		3-methylglutaconic aciduria type 3
Concept	67048		3-methylglutaconic aciduria type 4
Concept	672		Pallister-Hall syndrome
Concept	673		Malaria
Concept	674		Accessory pancreas
Concept	675		Annular pancreas
Concept	676		Hereditary chronic pancreatitis
Concept	677		Pancreatoblastoma
Concept	678		Papillon-Lefèvre syndrome
Concept	679		Malignant atrophic papulosis
Concept	68		Amoebiasis due to free-living amoebae
Concept	681		Hypokalemic periodic paralysis
Concept	682		Hyperkalemic periodic paralysis
Concept	683		Progressive supranuclear palsy
Concept	684		Paramyotonia congenita of Von Eulenburg
Concept	69061		Idiopathic steroid-sensitive nephrotic syndrome
Concept	69063		Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Concept	69076		Familial renal glucosuria
Concept	69077		Rhabdoid tumor
Concept	69078		Liposarcoma
Concept	69082		Odonto-tricho-ungual-digito-palmar syndrome
Concept	69083		Ectodermal dysplasia with natal teeth, Turnpenny type
Concept	69084		Pure hair and nail ectodermal dysplasia
Concept	69085		Limb-mammary syndrome
Concept	69087		Naegeli-Franceschetti-Jadassohn syndrome
Concept	69088		Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Concept	69125		Anonychia with flexural pigmentation
Concept	69126		PAPA syndrome
Concept	69663		Low phospholipid-associated cholelithiasis
Concept	69665		Intrahepatic cholestasis of pregnancy
Concept	69723		Tyrosinemia type 3
Concept	69735		Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Concept	69736		Bilateral acute depigmentation of the iris
Concept	69737		Bosley-Salih-Alorainy syndrome
Concept	69739		Athabaskan brainstem dysgenesis syndrome
Concept	69744		Circumscribed palmoplantar hypokeratosis
Concept	69745		Warty dyskeratoma
Concept	699		Pearson syndrome
Concept	7		3C syndrome
Concept	70		Proximal spinal muscular atrophy
Concept	700		Alopecia totalis
Concept	701		Alopecia universalis
Concept	702		Pelizaeus-Merzbacher disease
Concept	703		Bullous pemphigoid
Concept	704		Pemphigus vulgaris
Concept	70472		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Concept	70475		Radiation proctitis
Concept	70476		Vernal keratoconjunctivitis
Concept	705		Pendred syndrome
Concept	70567		Cholangiocarcinoma
Concept	70568		Post-transplant lymphoproliferative disease
Concept	70573		Small cell lung cancer
Concept	70578		Adult acute respiratory distress syndrome
Concept	70587		Infant acute respiratory distress syndrome
Concept	70588		Meconium aspiration syndrome
Concept	70589		Bronchopulmonary dysplasia
Concept	70590		Infantile apnea
Concept	70591		Chronic thromboembolic pulmonary hypertension
Concept	70592		Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Concept	70593		Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Concept	70594		Dopa-responsive dystonia due to sepiapterin reductase deficiency
Concept	70595		Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Concept	70596		Congenital Epstein-Barr virus infection
Concept	707		Plague
Concept	708		Peters anomaly
Concept	709		Peters plus syndrome
Concept	71		Chylomicron retention disease
Concept	710		Pfeiffer syndrome
Concept	712		Hemolytic anemia due to glucophosphate isomerase deficiency
Concept	71211		Neuromyelitis optica spectrum disorder
Concept	71212		Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Concept	71213		Retinal capillary malformation
Concept	71267		Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Concept	71271		Split hand-split foot-deafness syndrome
Concept	71272		Sandifer syndrome
Concept	71273		Renal nutcracker syndrome
Concept	71274		Disseminated peritoneal leiomyomatosis
Concept	71275		Rh deficiency syndrome
Concept	71276		Silent sinus syndrome
Concept	71277		Classic glucose transporter type 1 deficiency syndrome
Concept	71278		Congenital brain dysgenesis due to glutamine synthetase deficiency
Concept	71279		CANOMAD syndrome
Concept	71289		Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Concept	71290		Familial platelet disorder with associated myeloid malignancy
Concept	713		Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Concept	714		Hemolytic anemia due to diphosphoglycerate mutase deficiency
Concept	71493		Familial thrombocytosis
Concept	715		Glycogen storage disease due to muscle phosphorylase kinase deficiency
Concept	71505		Cancer-associated retinopathy
Concept	71517		Rapid-onset dystonia-parkinsonism
Concept	71518		Benign paroxysmal torticollis of infancy
Concept	71519		Psychogenic movement disorders
Concept	71526		Obesity due to pro-opiomelanocortin deficiency
Concept	71528		Obesity due to prohormone convertase I deficiency
Concept	71529		Obesity due to melanocortin 4 receptor deficiency
Concept	716		Phenylketonuria
Concept	718		Isolated Pierre Robin syndrome
Concept	72		Angelman syndrome
Concept	720		Pili bifurcati
Concept	721		Gray platelet syndrome
Concept	722		Hypoplasminogenemia
Concept	723		Pneumocystosis
Concept	724		Idiopathic acute eosinophilic pneumonia
Concept	725		Continuous spikes and waves during sleep
Concept	726		Alpers-Huttenlocher syndrome
Concept	727		Microscopic polyangiitis
Concept	728		Relapsing polychondritis
Concept	729		Polycythemia vera
Concept	73		Gorham-Stout disease
Concept	730		Autosomal dominant polycystic kidney disease
Concept	731		Autosomal recessive polycystic kidney disease
Concept	732		Polymyositis
Concept	73223		Global developmental delay-osteopenia-ectodermal defect syndrome
Concept	73224		Kidney tubulopathy-dilated cardiomyopathy syndrome
Concept	73229		HANAC syndrome
Concept	73230		Ossification anomalies-psychomotor developmental delay syndrome
Concept	73245		Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Concept	73246		Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Concept	73256		Central neurocytoma
Concept	73260		Paracoccidioidomycosis
Concept	73263		Zygomycosis
Concept	73267		Non-24-hour sleep-wake syndrome
Concept	73271		Bleeding diathesis due to a collagen receptor defect
Concept	73272		Growth delay due to insulin-like growth factor type 1 deficiency
Concept	73273		Growth delay due to insulin-like growth factor I resistance
Concept	733		Familial adenomatous polyposis
Concept	734		Alpha delta granule deficiency
Concept	73423		Acute ackee fruit intoxication
Concept	735		Porokeratosis of Mibelli
Concept	737		Porokeratosis plantaris palmaris et disseminata
Concept	739		Prader-Willi syndrome
Concept	74		Angiostrongyliasis
Concept	740		Hutchinson-Gilford progeria syndrome
Concept	741		Familial mitral valve prolapse
Concept	742		Prolidase deficiency
Concept	743		Severe hereditary thrombophilia due to congenital protein S deficiency
Concept	744		Proteus syndrome
Concept	745		Severe hereditary thrombophilia due to congenital protein C deficiency
Concept	746		Mitochondrial trifunctional protein deficiency
Concept	747		Autoimmune pulmonary alveolar proteinosis
Concept	749		Congenital prekallikrein deficiency
Concept	750		Pseudoachondroplasia
Concept	752		46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Concept	75233		Wolman disease
Concept	75234		Cholesteryl ester storage disease
Concept	75249		Familial isolated restrictive cardiomyopathy
Concept	753		46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Concept	75325		Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Concept	75326		Retinal arterial tortuosity	Familial isolated retinal arteriolar tortuosity
Concept	75327		North Carolina macular dystrophy
Concept	75373		Progressive bifocal chorioretinal atrophy
Concept	75374		Bradyopsia
Concept	75376		Familial drusen
Concept	75377		Central areolar choroidal dystrophy
Concept	75378		Oligocone trichromacy
Concept	75381		Cystoid macular dystrophy
Concept	75382		Oguchi disease
Concept	75389		Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Concept	75391		Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Concept	75392		Periodontal Ehlers-Danlos syndrome
Concept	75496		B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Concept	75497		X-linked Ehlers-Danlos syndrome
Concept	755		Leydig cell hypoplasia
Concept	75508		Angioosteohypotrophic syndrome
Concept	75563		X-linked sideroblastic anemia
Concept	75564		Acquired idiopathic sideroblastic anemia
Concept	75565		Tropical endomyocardial fibrosis
Concept	75566		Loeffler endocarditis
Concept	75567		Primary progressive freezing gait
Concept	756		Pseudohypoaldosteronism type 1
Concept	757		Pseudohypoaldosteronism type 2
Concept	758		Pseudoxanthoma elasticum
Concept	75840		Congenital muscular dystrophy, Ullrich type	Ullrich congenital muscular dystrophy
Concept	75857		6q terminal deletion syndrome
Concept	75858		MORM syndrome
Concept	76		Strongyloidiasis
Concept	760		Purine nucleoside phosphorylase deficiency
Concept	761		Immunoglobulin A vasculitis
Concept	763		Pycnodysostosis
Concept	764		Pyomyositis
Concept	765		Pyruvate dehydrogenase deficiency
Concept	766		Hemolytic anemia due to red cell pyruvate kinase deficiency
Concept	767		Polyarteritis nodosa
Concept	769		Rabson-Mendenhall syndrome
Concept	770		Rabies
Concept	772		Infantile Refsum disease
Concept	77258		Trichorhinophalangeal syndrome type 1
Concept	77259		Gaucher disease type 1
Concept	77260		Gaucher disease type 2
Concept	77261		Gaucher disease type 3
Concept	77292		Infantile neurovisceral acid sphingomyelinase deficiency
Concept	77293		Chronic visceral acid sphingomyelinase deficiency
Concept	77295		Odontoleukodystrophy
Concept	77296		Morgagni-Stewart-Morel syndrome
Concept	77297		Majeed syndrome
Concept	77298		Anophthalmia/microphthalmia-esophageal atresia syndrome
Concept	77299		Microphthalmia-brain atrophy syndrome
Concept	773		Refsum disease
Concept	77300		Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Concept	77301		Monosomy 9q22.3
Concept	774		Hereditary hemorrhagic telangiectasia
Concept	776		Lujan-Fryns syndrome
Concept	777		X-linked non-syndromic intellectual disability
Concept	778		Rett syndrome
Concept	779		Reynolds syndrome
Concept	78		Ankylostomiasis
Concept	780		Rhabdomyosarcoma
Concept	781		Q fever
Concept	782		Axenfeld-Rieger syndrome
Concept	783		Rubinstein-Taybi syndrome
Concept	785		Estrogen resistance syndrome
Concept	786		Generalized glucocorticoid resistance syndrome
Concept	79		Congenital alpha2-antiplasmin deficiency
Concept	790		Retinoblastoma
Concept	79076		Juvenile polyposis of infancy
Concept	79078		IgG4-related dacryoadenitis and sialadenitis
Concept	79083		PPARG-related familial partial lipodystrophy
Concept	79084		Familial partial lipodystrophy, Köbberling type
Concept	79085		AKT2-related familial partial lipodystrophy
Concept	79086		Acquired generalized lipodystrophy
Concept	79087		Acquired partial lipodystrophy
Concept	79091		Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Concept	79093		Foix-Alajouanine syndrome
Concept	79094		Grange syndrome
Concept	79095		Congenital bile acid synthesis defect type 4
Concept	79096		Pyridoxal phosphate-responsive seizures
Concept	79097		Folinic acid-responsive seizures
Concept	79098		Sympathetic ophthalmia
Concept	79099		Interstitial granulomatous dermatitis with arthritis
Concept	791		Retinitis pigmentosa
Concept	79100		Atrophoderma vermiculata
Concept	79101		Hyperprolinemia type 2
Concept	79102		Thyrotoxic periodic paralysis
Concept	79105		Myxofibrosarcoma
Concept	79106		Eiken syndrome
Concept	79107		Developmental malformations-deafness-dystonia syndrome
Concept	79113		Mandibulofacial dysostosis-microcephaly syndrome
Concept	79118		Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Concept	79124		Hepatic veno-occlusive disease-immunodeficiency syndrome
Concept	79126		Acute interstitial pneumonia
Concept	79127		Respiratory bronchiolitis-interstitial lung disease syndrome
Concept	79128		Lymphoid interstitial pneumonia
Concept	79129		Trichodysplasia-amelogenesis imperfecta syndrome
Concept	79133		Focal facial dermal dysplasia type I
Concept	79134		DEND syndrome
Concept	79135		Episodic ataxia type 3
Concept	79136		Episodic ataxia type 4
Concept	79137		Generalized epilepsy-paroxysmal dyskinesia syndrome
Concept	79138		Bickerstaff brainstem encephalitis
Concept	79139		Japanese encephalitis
Concept	79140		Cutaneous neuroendocrine carcinoma
Concept	79141		Hereditary painful callosities
Concept	79143		Isolated congenital anonychia
Concept	79144		Isolated congenital onychodysplasia
Concept	79145		Dowling-Degos disease
Concept	79146		Familial progressive hyperpigmentation
Concept	79147		Familial reactive perforating collagenosis
Concept	79148		Elastosis perforans serpiginosa
Concept	79149		Dermochondrocorneal dystrophy
Concept	79150		Linear and whorled nevoid hypermelanosis
Concept	79151		Acrokeratosis verruciformis of Hopf
Concept	79152		Disseminated superficial actinic porokeratosis
Concept	79153		Idiopathic trachyonychia
Concept	79154		2-aminoadipic 2-oxoadipic aciduria
Concept	79155		Hydroxykynureninuria
Concept	79156		Seizures-intellectual disability due to hydroxylysinuria syndrome
Concept	79157		2-methylbutyryl-CoA dehydrogenase deficiency
Concept	79159		Isobutyryl-CoA dehydrogenase deficiency
Concept	792		X-linked retinoschisis
Concept	79230		HJV or HAMP-related hemochromatosis
Concept	79233		Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Concept	79234		Crigler-Najjar syndrome type 1
Concept	79235		Crigler-Najjar syndrome type 2
Concept	79237		Galactokinase deficiency
Concept	79238		Galactose epimerase deficiency
Concept	79239		Classic galactosemia
Concept	79240		Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Concept	79241		Biotinidase deficiency
Concept	79242		Holocarboxylase synthetase deficiency
Concept	79243		Pyruvate dehydrogenase E1-alpha deficiency
Concept	79244		Pyruvate dehydrogenase E2 deficiency
Concept	79246		Pyruvate dehydrogenase phosphatase deficiency
Concept	79253		Mild phenylketonuria
Concept	79254		Classic phenylketonuria
Concept	79255		GM1 gangliosidosis type 1
Concept	79256		GM1 gangliosidosis type 2
Concept	79257		GM1 gangliosidosis type 3
Concept	79258		Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Concept	79259		Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Concept	79262		Version: Adult neuronal ceroid lipofuscinosis		Removed this Concept
Concept	79263		Version: Infantile neuronal ceroid lipofuscinosis		Removed this Concept
Concept	79264		Version: Juvenile neuronal ceroid lipofuscinosis		Removed this Concept
Concept	79269		Sanfilippo syndrome type A
Concept	79270		Sanfilippo syndrome type B
Concept	79271		Sanfilippo syndrome type C
Concept	79272		Sanfilippo syndrome type D
Concept	79273		Hereditary coproporphyria
Concept	79276		Acute intermittent porphyria
Concept	79277		Congenital erythropoietic porphyria
Concept	79278		Autosomal erythropoietic protoporphyria
Concept	79279		Alpha-N-acetylgalactosaminidase deficiency type 1
Concept	79280		Alpha-N-acetylgalactosaminidase deficiency type 2
Concept	79281		Alpha-N-acetylgalactosaminidase deficiency type 3
Concept	79282		Methylmalonic acidemia with homocystinuria, type cblC
Concept	79283		Methylmalonic acidemia with homocystinuria, type cblD
Concept	79284		Methylmalonic acidemia with homocystinuria type cblF
Concept	79292		Fish-eye disease
Concept	79293		Familial LCAT deficiency
Concept	79299		Congenital glucokinase-related hyperinsulinism
Concept	793		SAPHO syndrome
Concept	79301		Congenital bile acid synthesis defect type 1
Concept	79302		Congenital bile acid synthesis defect type 3
Concept	79303		Congenital bile acid synthesis defect type 2
Concept	79304		Progressive familial intrahepatic cholestasis type 2
Concept	79305		Progressive familial intrahepatic cholestasis type 3
Concept	79306		Progressive familial intrahepatic cholestasis type 1
Concept	79310		Vitamin B12-responsive methylmalonic acidemia type cblA
Concept	79311		Vitamin B12-responsive methylmalonic acidemia type cblB
Concept	79312		Vitamin B12-unresponsive methylmalonic acidemia type mut-
Concept	79314		L-2-hydroxyglutaric aciduria
Concept	79315		D-2-hydroxyglutaric aciduria
Concept	79318		PMM2-CDG
Concept	79319		MPI-CDG
Concept	79320		ALG6-CDG
Concept	79321		ALG3-CDG
Concept	79322		DPM1-CDG
Concept	79323		MPDU1-CDG
Concept	79324		ALG12-CDG
Concept	79325		ALG8-CDG
Concept	79326		ALG2-CDG
Concept	79327		ALG1-CDG
Concept	79328		ALG9-CDG
Concept	79329		MGAT2-CDG
Concept	79330		MOGS-CDG
Concept	79332		B4GALT1-CDG
Concept	79333		COG7-CDG
Concept	79345		Brachytelephalangic chondrodysplasia punctata
Concept	79346		Chondrodysplasia punctata, tibial-metacarpal type
Concept	79347		Chondrodysplasia punctata, Toriello type
Concept	79350		3-phosphoserine phosphatase deficiency, infantile/juvenile form
Concept	79351		3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Concept	79394		Congenital ichthyosiform erythroderma
Concept	79395		Keratoderma hereditarium mutilans with ichthyosis
Concept	79396		Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Concept	79397		Epidermolysis bullosa simplex with mottled pigmentation
Concept	79399		Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Concept	794		Saethre-Chotzen syndrome
Concept	79400		Localized epidermolysis bullosa simplex
Concept	79401		PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
Concept	79402		Intermediate generalized junctional epidermolysis bullosa
Concept	79403		Junctional epidermolysis bullosa with pyloric atresia
Concept	79404		Severe generalized junctional epidermolysis bullosa
Concept	79405		Junctional epidermolysis bullosa inversa
Concept	79406		Late-onset junctional epidermolysis bullosa
Concept	79408		Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Concept	79409		Recessive dystrophic epidermolysis bullosa inversa
Concept	79410		Localized dystrophic epidermolysis bullosa, pretibial form
Concept	79411		Self-improving dystrophic epidermolysis bullosa
Concept	79414		Woolly hair nevus
Concept	79430		Hermansky-Pudlak syndrome
Concept	79431		Oculocutaneous albinism type 1A
Concept	79432		Oculocutaneous albinism type 2
Concept	79433		Oculocutaneous albinism type 3
Concept	79434		Oculocutaneous albinism type 1B
Concept	79435		Oculocutaneous albinism type 4
Concept	79443		Pseudohypoparathyroidism type 1A
Concept	79444		Pseudohypoparathyroidism type 1C
Concept	79445		Pseudopseudohypoparathyroidism
Concept	79447		X-linked lethal multiple pterygium syndrome
Concept	79452		Milroy disease
Concept	79455		Cutaneous mastocytoma
Concept	79456		Diffuse cutaneous mastocytosis
Concept	79457		Maculopapular cutaneous mastocytosis
Concept	79466		Inflammatory linear verrucous epidermal nevus
Concept	79467		Verrucous nevus
Concept	79468		Acanthokeratolytic verrucous nevus
Concept	79473		Porphyria variegata	Variegate porphyria
Concept	79474		Atypical Werner syndrome
Concept	79476		Griscelli syndrome type 1
Concept	79477		Griscelli syndrome type 2
Concept	79478		Griscelli syndrome type 3
Concept	79479		Pemphigus vegetans
Concept	79480		Pemphigus erythematosus
Concept	79481		Pemphigus foliaceus
Concept	79483		Phakomatosis cesioflammea
Concept	79484		Phakomatosis cesiomarmorata
Concept	79485		Phakomatosis spilorosea
Concept	79489		Macrocystic lymphatic malformation
Concept	79490		Microcystic lymphatic malformation
Concept	79492		Pili gemini
Concept	79493		Brooke-Spiegler syndrome
Concept	79495		X-linked congenital generalized hypertrichosis
Concept	79499		Autosomal dominant deafness-onychodystrophy syndrome
Concept	79500		DOORS syndrome
Concept	79501		Punctate palmoplantar keratoderma type 1
Concept	79502		Punctate palmoplantar keratoderma type 2
Concept	79503		Ichthyosis hystrix of Curth-Macklin
Concept	79506		Cholesterol-ester transfer protein deficiency
Concept	79507		Hypotonia-failure to thrive-microcephaly syndrome
Concept	796		Sandhoff disease
Concept	79643		Autosomal recessive hyperinsulinism due to SUR1 deficiency
Concept	79644		Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Concept	79651		Mild hyperphenylalaninemia
Concept	79665		Gardner syndrome
Concept	797		Sarcoidosis
Concept	798		Schinzel-Giedion syndrome
Concept	799		Schizencephaly
Concept	8		47,XYY syndrome
Concept	80		Antiphospholipid syndrome
Concept	800		Schwartz-Jampel syndrome
Concept	803		Amyotrophic lateral sclerosis
Concept	805		Tuberous sclerosis complex
Concept	806		Scott syndrome
Concept	808		Seckel syndrome
Concept	809		Mixed connective tissue disease
Concept	81		Antisynthetase syndrome
Concept	810		Shigellosis
Concept	811		Shwachman-Diamond syndrome
Concept	812		Sialidosis type 1
Concept	813		Silver-Russell syndrome
Concept	816		Sjögren-Larsson syndrome
Concept	818		Smith-Lemli-Opitz syndrome
Concept	819		Smith-Magenis syndrome
Concept	82		Hereditary thrombophilia due to congenital antithrombin deficiency
Concept	820		Sneddon syndrome
Concept	821		Sotos syndrome
Concept	822		Hereditary spherocytosis
Concept	824		Primary myelofibrosis
Concept	826		Sporotrichosis
Concept	827		Stargardt disease
Concept	828		Stickler syndrome
Concept	829		Adult-onset Still disease
Concept	83		Antley-Bixler syndrome
Concept	831		Congenital cervical spinal stenosis
Concept	832		Succinyl-CoA:3-oxoacid CoA transferase deficiency
Concept	833		Encephalopathy due to sulfite oxidase deficiency
Concept	83311		Rocky Mountain spotted fever
Concept	83312		Rickettsialpox
Concept	83313		Boutonneuse fever
Concept	83314		Epidemic typhus
Concept	83315		Murine typhus
Concept	83316		Pseudotyphus of California
Concept	83317		Scrub typhus
Concept	83330		Proximal spinal muscular atrophy type 1
Concept	834		Free sialic acid storage disease
Concept	83418		Proximal spinal muscular atrophy type 2
Concept	83419		Proximal spinal muscular atrophy type 3
Concept	83420		Proximal spinal muscular atrophy type 4
Concept	83450		Regional odontodysplasia
Concept	83451		Florid cemento-osseous dysplasia
Concept	83452		Complex regional pain syndrome
Concept	83453		Vulvovaginal gingival syndrome
Concept	83454		Glomuvenous malformation
Concept	83461		Congenital primary aphakia
Concept	83463		Microtia
Concept	83465		Narcolepsy type 2
Concept	83467		Morvan syndrome
Concept	83468		Solitary bone cyst
Concept	83469		Desmoplastic small round cell tumor
Concept	83471		T-cell immunodeficiency with thymic aplasia
Concept	83472		CAMOS syndrome
Concept	83473		Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Concept	83476		West-Nile encephalitis
Concept	83482		Mycoplasma encephalitis
Concept	83483		La Crosse encephalitis
Concept	83484		St. Louis encephalitis
Concept	83593		Western equine encephalitis
Concept	83594		Eastern equine encephalitis
Concept	83595		Colorado tick fever
Concept	83597		Acute disseminated encephalomyelitis
Concept	83600		Encephalitis lethargica
Concept	83601		Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Concept	83616		Rubella panencephalitis
Concept	83617		Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Concept	83619		Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Concept	83620		Enteric anendocrinosis
Concept	83628		LUMBAR syndrome
Concept	83629		Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Concept	83639		Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Concept	83642		Microcytic anemia with liver iron overload
Concept	838		Susac syndrome
Concept	839		Congenital nephrotic syndrome, Finnish type
Concept	84		Fanconi anemia
Concept	840		Syringocystadenoma papilliferum
Concept	84064		Syndromic diarrhea
Concept	84065		Idiopathic malabsorption due to bile acid synthesis defects
Concept	84081		Senior-Boichis syndrome
Concept	84085		Hinman syndrome
Concept	84087		Collagen type III glomerulopathy
Concept	84090		Fibronectin glomerulopathy
Concept	84093		Hereditary thermosensitive neuropathy
Concept	841		Sebocystomatosis
Concept	84132		Desmin-related myopathy with Mallory body-like inclusions
Concept	84142		Isaacs syndrome
Concept	842		Testicular seminomatous germ cell tumor
Concept	844		Lown-Ganong-Levine syndrome
Concept	845		Tay-Sachs disease
Concept	846		Alpha-thalassemia
Concept	847		Alpha-thalassemia-X-linked intellectual disability syndrome	X-linked alpha-thalassemia-intellectual disability syndrome
Concept	848		Beta-thalassemia
Concept	849		Glanzmann thrombasthenia
Concept	851		Paris-Trousseau thrombocytopenia
Concept	85110		Familial encephalopathy with neuroserpin inclusion bodies
Concept	85112		Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Concept	85128		Bothnia retinal dystrophy
Concept	85136		Cystic leukoencephalopathy without megalencephaly
Concept	85138		Addison disease
Concept	85146		Neurogenic scapuloperoneal syndrome, Kaeser type
Concept	85162		Facial onset sensory and motor neuronopathy
Concept	85163		Hypomyelination-congenital cataract syndrome
Concept	85164		Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Concept	85165		Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Concept	85166		Platyspondylic dysplasia, Torrance type
Concept	85167		Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Concept	85168		Craniofacial conodysplasia
Concept	85169		Familial digital arthropathy-brachydactyly
Concept	85170		Mesomelic dysplasia, Savarirayan type
Concept	85172		Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Concept	85173		IMAGe syndrome
Concept	85174		Pseudodiastrophic dysplasia
Concept	85175		Astley-Kendall dysplasia
Concept	85179		Infantile osteopetrosis with neuroaxonal dysplasia
Concept	85182		Diaphyseal medullary stenosis-bone malignancy syndrome
Concept	85184		Craniometadiaphyseal dysplasia, wormian bone type
Concept	85186		Endosteal sclerosis-cerebellar hypoplasia syndrome
Concept	85188		Metaphyseal dysplasia, Braun-Tinschert type
Concept	85191		Singleton-Merten dysplasia
Concept	85192		Calvarial doughnut lesions-bone fragility syndrome
Concept	85193		Idiopathic juvenile osteoporosis
Concept	85194		Spondylo-ocular syndrome
Concept	85195		Familial expansile osteolysis
Concept	85197		Genochondromatosis type 1
Concept	85198		Dysspondyloenchondromatosis
Concept	85199		Craniosynostosis-anal anomalies-porokeratosis syndrome
Concept	852		X-linked thrombocytopenia with normal platelets
Concept	85200		Version: Ischiovertebral syndrome		Removed this Concept
Concept	85201		Genitopatellar syndrome
Concept	85202		Keutel syndrome
Concept	85203		Acropectoral syndrome
Concept	85212		Fetal Gaucher disease
Concept	85273		X-linked intellectual disability, Abidi type
Concept	85274		Syndromic X-linked intellectual disability 7
Concept	85275		Microphthalmia-ankyloblepharon-intellectual disability syndrome
Concept	85276		X-linked intellectual disability, Armfield type
Concept	85277		X-linked intellectual disability, Cantagrel type
Concept	85278		Christianson syndrome
Concept	85279		KDM5C-related syndromic X-linked intellectual disability
Concept	85280		X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
Concept	85282		MEHMO syndrome
Concept	85283		X-linked intellectual disability, Miles-Carpenter type
Concept	85284		BRESEK syndrome
Concept	85285		X-linked intellectual disability, Schimke type
Concept	85286		X-linked intellectual disability, Shashi type
Concept	85287		X-linked intellectual disability, Siderius type
Concept	85288		X-linked intellectual disability, Stocco Dos Santos type
Concept	85290		X-linked intellectual disability, Wilson type
Concept	85292		X-linked spinocerebellar ataxia type 4
Concept	85293		X-linked intellectual disability, Cabezas type
Concept	85294		X-linked epilepsy-learning disabilities-behavior disorders syndrome
Concept	85295		HSD10 disease, atypical type
Concept	85297		X-linked spinocerebellar ataxia type 3
Concept	853		Fetal and neonatal alloimmune thrombocytopenia
Concept	85317		X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
Concept	85319		X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
Concept	85320		X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Concept	85321		Deafness-intellectual disability syndrome, Martin-Probst type
Concept	85322		X-linked intellectual disability, Pai type
Concept	85323		X-linked intellectual disability, Seemanova type
Concept	85324		X-linked intellectual disability, Shrimpton type
Concept	85325		X-linked intellectual disability, Stevenson type
Concept	85326		X-linked intellectual disability, Stoll type
Concept	85327		X-linked intellectual disability-acromegaly-hyperactivity syndrome
Concept	85329		X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Concept	85332		X-linked intellectual disability-retinitis pigmentosa syndrome
Concept	85334		X-linked neurodegenerative syndrome, Bertini type
Concept	85335		Fried syndrome
Concept	85336		X-linked neurodegenerative syndrome, Hamel type
Concept	85338		X-linked intellectual disability-ataxia-apraxia syndrome
Concept	854		Primitive portal vein thrombosis
Concept	85408		Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Concept	85410		Oligoarticular juvenile idiopathic arthritis
Concept	85414		Systemic-onset juvenile idiopathic arthritis
Concept	85435		Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Concept	85436		Psoriasis-related juvenile idiopathic arthritis
Concept	85438		Enthesitis-related juvenile idiopathic arthritis
Concept	85442		Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Concept	85443		AL amyloidosis
Concept	85445		AA amyloidosis
Concept	85446		Wild type ABeta2M amyloidosis
Concept	85447		ATTRV30M amyloidosis
Concept	85448		AGel amyloidosis
Concept	85450		Hereditary amyloidosis with primary renal involvement
Concept	85451		ATTRV122I amyloidosis
Concept	85453		X-linked reticulate pigmentary disorder
Concept	85458		Hereditary cerebral hemorrhage with amyloidosis	Cerebral Amyloid Angiopathy
Concept	857		Townes-Brocks syndrome
Concept	858		Congenital toxoplasmosis
Concept	859		Transcobalamin deficiency
Concept	86		Familial abdominal aortic aneurysm
Concept	860		Congenitally uncorrected transposition of the great arteries
Concept	861		Treacher-Collins syndrome
Concept	863		Trichinellosis
Concept	86309		DPAGT1-CDG
Concept	864		Trichofolliculoma
Concept	867		Familial multiple trichoepithelioma
Concept	86788		X-linked severe congenital neutropenia
Concept	86789		Patella aplasia/hypoplasia	Isolated patella aplasia/hypoplasia
Concept	86797		Atypical lichen myxedematosus
Concept	868		Triose phosphate-isomerase deficiency
Concept	86812		POMT1-related limb-girdle muscular dystrophy R11
Concept	86813		Helicoid peripapillary chorioretinal degeneration
Concept	86814		Benign adult familial myoclonic epilepsy
Concept	86815		Aplasia of lacrimal and salivary glands
Concept	86816		Congenital analbuminemia
Concept	86817		Hemolytic anemia due to adenylate kinase deficiency
Concept	86818		Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Concept	86819		Atrichia with papular lesions
Concept	86820		Familial avascular necrosis of femoral head
Concept	86821		Lissencephaly type 3-familial fetal akinesia sequence syndrome
Concept	86822		Lissencephaly type 3-metacarpal bone dysplasia syndrome
Concept	86829		Chronic neutrophilic leukemia
Concept	86830		Chronic myeloproliferative disease, unclassifiable
Concept	86834		Juvenile myelomonocytic leukemia
Concept	86839		Refractory anemia with excess blasts	Myelodysplastic neoplasm with increased blasts
Concept	86841		Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Concept	86843		Acute panmyelosis with myelofibrosis
Concept	86845		Acute myeloid leukaemia with myelodysplasia-related features
Concept	86849		Acute basophilic leukemia
Concept	86850		Myeloid sarcoma
Concept	86852		B-cell prolymphocytic leukemia
Concept	86854		Splenic marginal zone lymphoma
Concept	86855		Plasmacytoma
Concept	86861		Non-amyloid monoclonal immunoglobulin deposition disease
Concept	86864		Heavy chain disease
Concept	86867		Nodal marginal zone B-cell lymphoma
Concept	86869		Lymphomatoid granulomatosis
Concept	86870		Blastic plasmacytoid dendritic cell neoplasm
Concept	86871		T-cell prolymphocytic leukemia
Concept	86872		T-cell large granular lymphocyte leukemia
Concept	86873		Aggressive NK-cell leukemia
Concept	86875		Adult T-cell leukemia/lymphoma
Concept	86879		Extranodal nasal NK/T cell lymphoma
Concept	86880		Enteropathy-associated T-cell lymphoma
Concept	86882		Hepatosplenic T-cell lymphoma
Concept	86884		Subcutaneous panniculitis-like T-cell lymphoma
Concept	86885		Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Concept	86886		Angioimmunoblastic T-cell lymphoma
Concept	86893		Nodular lymphocyte predominant Hodgkin lymphoma
Concept	86896		Histiocytic sarcoma
Concept	86897		Langerhans cell sarcoma
Concept	869		Triple A syndrome
Concept	86900		Interdigitating dendritic cell sarcoma
Concept	86902		Follicular dendritic cell sarcoma
Concept	86903		Dendritic cell sarcoma not otherwise specified
Concept	86904		Methotrexate-associated lymphoproliferative disorders
Concept	86906		Hypothalamic hamartomas with gelastic seizures
Concept	86908		Idiopathic hemiconvulsion-hemiplegia syndrome
Concept	86909		Myoclonic epilepsy of infancy
Concept	86911		Epilepsy with myoclonic absences
Concept	86913		Myoclonic epilepsy in non-progressive encephalopathies
Concept	86914		Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
Concept	86915		Lymphedema-atrial septal defects-facial changes syndrome
Concept	86918		Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Concept	86919		Keratosis palmaris et plantaris-clinodactyly syndrome
Concept	86920		Dermatopathia pigmentosa reticularis
Concept	86923		Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Concept	87		Apert syndrome
Concept	870		Down syndrome
Concept	871		Familial progressive cardiac conduction defect
Concept	873		Desmoid tumor
Concept	874		Primary adult heart tumor
Concept	875		Primary pediatric heart tumor
Concept	87503		Mal de Meleda
Concept	876		Yolk sac tumor
Concept	87876		Sialidosis type 2
Concept	87884		Non-syndromic genetic deafness
Concept	879		Tungiasis
Concept	88		Idiopathic aplastic anemia
Concept	881		Turner syndrome
Concept	882		Tyrosinemia type 1
Concept	883		Extragonadal teratoma
Concept	884		Tetrasomy 12p
Concept	886		Usher syndrome
Concept	88616		Autosomal recessive non-syndromic intellectual disability
Concept	88618		S-adenosylhomocysteine hydrolase deficiency
Concept	88619		Familial acute necrotizing encephalopathy
Concept	88620		Isolated congenital anosmia
Concept	88621		Ichthyosis-prematurity syndrome
Concept	88628		Posterior column ataxia-retinitis pigmentosa syndrome
Concept	88629		Tritanopia
Concept	88630		Terminal osseous dysplasia-pigmentary defects syndrome
Concept	88633		Superior limbic keratoconjunctivitis
Concept	88635		Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Concept	88637		Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Concept	88639		Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Concept	88642		Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Concept	88643		Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Concept	88644		Autosomal recessive ataxia, Beauce type
Concept	88659		Autosomal dominant progressive nephropathy with hypertension
Concept	88660		Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Concept	88661		Amelogenesis imperfecta
Concept	887		VACTERL/VATER association
Concept	888		Van der Woude syndrome
Concept	889		Cutaneous small vessel vasculitis
Concept	88917		X-linked Alport syndrome
Concept	88918		Autosomal dominant Alport syndrome
Concept	88919		Autosomal recessive Alport syndrome
Concept	88924		Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Concept	88938		Pseudohypoaldosteronism type 2A
Concept	88939		Pseudohypoaldosteronism type 2B
Concept	88940		Pseudohypoaldosteronism type 2C
Concept	88949		MUC1-related autosomal dominant tubulointerstitial kidney disease
Concept	88950		UMOD-related autosomal dominant tubulointerstitial kidney disease
Concept	890		Hepatic veno-occlusive disease
Concept	891		Familial exudative vitreoretinopathy
Concept	892		Von Hippel-Lindau disease
Concept	893		WAGR syndrome
Concept	894		Waardenburg syndrome type 1
Concept	895		Waardenburg syndrome type 2
Concept	896		Waardenburg syndrome type 3
Concept	897		Waardenburg-Shah syndrome
Concept	898		Wagner disease
Concept	89838		Autosomal recessive generalized epidermolysis bullosa simplex
Concept	89842		Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Concept	89843		Dystrophic epidermolysis bullosa pruriginosa
Concept	89844		Lissencephaly syndrome, Norman-Roberts type
Concept	899		Walker-Warburg syndrome
Concept	89936		X-linked hypophosphatemia
Concept	89937		Autosomal dominant hypophosphatemic rickets
Concept	89938		Bartter syndrome type 4
Concept	9		Tetrasomy X
Concept	90		Argininemia
Concept	900		Granulomatosis with polyangiitis
Concept	90000		Erythema elevatum diutinum
Concept	90001		X-linked cone dysfunction syndrome with myopia
Concept	90002		Undifferentiated connective tissue syndrome
Concept	90003		Inflammatory pseudotumor of the liver
Concept	90020		Parkinson-dementia complex of Guam
Concept	90021		Radiation myelitis
Concept	90023		Primary immunodeficiency syndrome due to LAMTOR2 deficiency	Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Concept	90024		Deafness with labyrinthine aplasia, microtia, and microdontia
Concept	90026		Primary erythromelalgia
Concept	90030		Hemolytic anemia due to glutathione reductase deficiency
Concept	90031		Non-spherocytic hemolytic anemia due to hexokinase deficiency
Concept	90033		Autoimmune hemolytic anemia, warm type
Concept	90035		Paroxysmal cold hemoglobinuria
Concept	90036		Mixed-type autoimmune hemolytic anemia
Concept	90037		Drug-induced autoimmune hemolytic anemia
Concept	90038		Shiga toxin-associated hemolytic uremic syndrome
Concept	90039		Hemoglobin D disease
Concept	90041		Gaisböck syndrome
Concept	90042		Primary familial polycythemia
Concept	90044		Familial pseudohyperkalemia
Concept	90045		Hereditary folate malabsorption
Concept	90050		Retinopathy of prematurity
Concept	90051		Sepsis in premature infants
Concept	90052		Recurrent hepatitis C virus induced liver disease in liver transplant recipients
Concept	90053		Complications after hematopoietic stem cell transplantation
Concept	90056		Moderate and severe traumatic brain injury
Concept	90058		Spinal cord injury
Concept	90059		Sudden sensorineural hearing loss
Concept	90060		Diffuse alveolar hemorrhage
Concept	90062		Acute liver failure
Concept	90064		Acute peripheral arterial occlusion
Concept	90065		Acquired aneurysmal subarachnoid hemorrhage
Concept	90066		Pneumonia caused by Pseudomonas aeruginosa infection
Concept	90068		Cocaine intoxication
Concept	90069		Systemic monochloroacetate poisoning
Concept	90073		Hepatitis B reinfection following liver transplantation
Concept	90076		Partial deep dermal and full thickness burns
Concept	90078		Invasive infections due to vancomycin-resistant enterococci
Concept	90080		Scarring in glaucoma filtration surgical procedures
Concept	90081		AIDS wasting syndrome
Concept	901		Wells syndrome
Concept	90103		Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Concept	90117		Hereditary motor and sensory neuropathy, Okinawa type
Concept	90118		Severe early-onset axonal neuropathy due to MFN2 deficiency
Concept	90119		Hereditary motor and sensory neuropathy with acrodystrophy
Concept	90120		Hereditary motor and sensory neuropathy type 6
Concept	90153		Mandibuloacral dysplasia with type A lipodystrophy
Concept	90154		Mandibuloacral dysplasia with type B lipodystrophy
Concept	90156		Centrifugal lipodystrophy
Concept	90157		Drug-induced localized lipodystrophy
Concept	90158		Idiopathic localized lipodystrophy
Concept	90159		Panniculitis-induced localized lipodystrophy
Concept	90160		Pressure-induced localized lipoatrophy
Concept	90186		Meige disease
Concept	902		Werner syndrome
Concept	90280		Chilblain lupus
Concept	90281		Discoid lupus erythematosus
Concept	90282		Hypertrophic or verrucous lupus erythematosus
Concept	90283		Lupus erythematosus tumidus
Concept	90285		Lupus erythematosus panniculitis
Concept	90289		Localized scleroderma
Concept	90291		Systemic sclerosis
Concept	903		Von Willebrand disease
Concept	90301		Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Concept	90307		Parkes Weber syndrome
Concept	90308		Klippel-Trénaunay syndrome
Concept	90321		Cockayne syndrome type 1
Concept	90322		Cockayne syndrome type 2
Concept	90324		Cockayne syndrome type 3
Concept	90340		Blau syndrome
Concept	90342		Xeroderma pigmentosum variant
Concept	90348		Autosomal dominant cutis laxa
Concept	90349		Autosomal recessive cutis laxa type 1
Concept	90354		Brittle cornea syndrome
Concept	90362		Primary intestinal lymphangiectasia
Concept	90363		Secondary intestinal lymphangiectasia
Concept	90368		Hypotrichosis simplex of the scalp
Concept	90389		Telangiectasia macularis eruptiva perstans
Concept	90390		Anonychia-onychodystrophy syndrome
Concept	90393		Nodular lichen myxedematosus
Concept	90394		Discrete papular lichen myxedematosus
Concept	90395		Papular mucinosis of infancy
Concept	90396		Acral persistent papular mucinosis
Concept	90397		Self-healing papular mucinosis
Concept	90398		Localized lichen myxedematosus with mixed features of different subtypes
Concept	90399		Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
Concept	904		Williams syndrome
Concept	90400		Scleromyxedema without monoclonal gammopathy
Concept	905		Wilson disease
Concept	906		Wiskott-Aldrich syndrome
Concept	90625		Rare X-linked non-syndromic sensorineural deafness type DFN
Concept	90635		Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Concept	90636		Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Concept	90641		Rare mitochondrial non-syndromic sensorineural deafness
Concept	90646		Deafness-hypogonadism syndrome
Concept	90647		Jervell and Lange-Nielsen syndrome
Concept	90650		Otopalatodigital syndrome type 1
Concept	90652		Otopalatodigital syndrome type 2
Concept	90653		Stickler syndrome type 1
Concept	90654		Stickler syndrome type 2
Concept	90658		Charcot-Marie-Tooth disease type 1E
Concept	90673		Hypothyroidism due to TSH receptor mutations
Concept	90674		Isolated thyroid-stimulating hormone deficiency
Concept	90695		Non-acquired panhypopituitarism
Concept	90790		Congenital lipoid adrenal hyperplasia due to STAR deficency
Concept	90791		Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Concept	90793		Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Concept	90794		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Concept	90795		Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Concept	90796		46,XY difference of sex development due to isolated 17,20-lyase deficiency
Concept	90797		Partial androgen insensitivity syndrome
Concept	908		Fragile X syndrome
Concept	909		Cerebrotendinous xanthomatosis
Concept	91		Aromatase deficiency
Concept	910		Xeroderma pigmentosum
Concept	911		Combined immunodeficiency due to ZAP70 deficiency
Concept	91127		Adenovirus infection in immunocompromised patients
Concept	91130		Cardiomyopathy-hypotonia-lactic acidosis syndrome
Concept	91131		DK1-CDG
Concept	91132		Ichthyosis-hypotrichosis syndrome
Concept	91135		Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Concept	91136		Acquired monoclonal Ig light chain-associated Fanconi syndrome
Concept	91138		Cryoglobulinemic vasculitis
Concept	91139		Simple cryoglobulinemia
Concept	91140		Unspecified juvenile idiopathic arthritis
Concept	912		Zellweger syndrome
Concept	913		Zollinger-Ellison syndrome
Concept	91347		TSH-secreting pituitary adenoma
Concept	91348		Functioning gonadotropic adenoma
Concept	91349		Non-functioning pituitary adenoma
Concept	91350		Pituitary deficiency due to Rathke cleft cysts
Concept	91351		Pituitary dermoid and epidermoid cysts
Concept	91352		Germinoma of the central nervous system
Concept	91354		Pituitary deficiency due to empty sella turcica syndrome
Concept	91355		Sheehan syndrome
Concept	91358		Congenital esophageal diverticulum
Concept	91359		Chronic pneumonitis of infancy
Concept	91364		Non-specific interstitial pneumonia
Concept	91387		Familial thoracic aortic aneurysm and aortic dissection
Concept	91396		Isolated cryptophthalmia
Concept	91397		Isolated ankyloblepharon filiforme adnatum
Concept	91411		Congenital ptosis
Concept	91412		Marcus-Gunn syndrome
Concept	91413		Congenital Horner syndrome
Concept	91414		Pilomatrixoma
Concept	91416		Isolated congenital alacrima
Concept	91481		Ring dermoid of cornea
Concept	91483		Rieger anomaly
Concept	91489		Isolated congenital megalocornea
Concept	91490		Isolated congenital sclerocornea
Concept	91491		Congenital ectropion uveae
Concept	91492		Early-onset non-syndromic cataract	Early onset non-syndromic cataract
Concept	91494		Macular coloboma-cleft palate-hallux valgus syndrome
Concept	91495		Persistent hyperplastic primary vitreous
Concept	91496		Snowflake vitreoretinal degeneration
Concept	91498		Familial congenital palsy of trochlear nerve
Concept	915		Aarskog-Scott syndrome
Concept	91500		Tubulointerstitial nephritis and uveitis syndrome
Concept	91546		Lyme disease
Concept	91547		Relapsing fever
Concept	916		Aase-Smith syndrome
Concept	920		Ablepharon macrostomia syndrome
Concept	92050		Congenital tufting enteropathy
Concept	921		Abruzzo-Erickson syndrome
Concept	922		Familial nasal acilia
Concept	926		Acatalasemia
Concept	927		Hyperammonemia due to N-acetylglutamate synthase deficiency
Concept	929		Achalasia-microcephaly syndrome
Concept	93		Aspartylglucosaminuria
Concept	930		Idiopathic achalasia
Concept	931		Acheiropodia	Isolated acheiropodia
Concept	93100		Renal agenesis, unilateral
Concept	93101		Renal hypoplasia
Concept	93108		Renal dysplasia
Concept	93109		Congenital megacalycosis
Concept	93110		Posterior urethral valve
Concept	93111		HNF1B-related autosomal dominant tubulointerstitial kidney disease
Concept	93114		Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Concept	93126		Pauci-immune glomerulonephritis
Concept	93160		Hypocalcemic vitamin D-resistant rickets
Concept	93164		Transient pseudohypoaldosteronism
Concept	93172		Renal dysplasia, unilateral
Concept	93173		Renal dysplasia, bilateral
Concept	93176		Unilateral congenital megacalycosis
Concept	93177		Congenital bilateral megacalycosis
Concept	932		Achondrogenesis
Concept	93256		Fragile X-associated tremor/ataxia syndrome
Concept	93258		Pfeiffer syndrome type 1
Concept	93259		Pfeiffer syndrome type 2
Concept	93260		Pfeiffer syndrome type 3
Concept	93262		Crouzon syndrome-acanthosis nigricans syndrome
Concept	93267		Cloverleaf skull-multiple congenital anomalies syndrome
Concept	93268		Short rib-polydactyly syndrome, Beemer-Langer type
Concept	93269		Short rib-polydactyly syndrome, Majewski type
Concept	93270		Short rib-polydactyly syndrome, Saldino-Noonan type
Concept	93271		Short rib-polydactyly syndrome, Verma-Naumoff type
Concept	93274		Thanatophoric dysplasia type 2
Concept	93276		Polyostotic fibrous dysplasia
Concept	93277		Monostotic fibrous dysplasia
Concept	93279		Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Concept	93282		Spondyloepimetaphyseal dysplasia, PAPSS2 type
Concept	93283		Spondyloepiphyseal dysplasia, Kimberley type
Concept	93284		Spondyloepiphyseal dysplasia tarda
Concept	93292		Adenoma of pancreas
Concept	93293		Okihiro syndrome
Concept	93296		Achondrogenesis type 2
Concept	93297		Hypochondrogenesis
Concept	93298		Achondrogenesis type 1B
Concept	93299		Achondrogenesis type 1A
Concept	93302		Brachyolmia, Maroteaux type
Concept	93304		Autosomal dominant brachyolmia
Concept	93307		Multiple epiphyseal dysplasia type 4
Concept	93308		Multiple epiphyseal dysplasia type 1
Concept	93311		Multiple epiphyseal dysplasia type 5
Concept	93314		Spondylometaphyseal dysplasia, Kozlowski type
Concept	93315		Spondylometaphyseal dysplasia, 'corner fracture' type
Concept	93316		Spondylometaphyseal dysplasia, Schmidt type
Concept	93317		Spondylometaphyseal dysplasia, Sedaghatian type
Concept	93320		Ulnar hemimelia	Isolated ulnar hemimelia
Concept	93321		Radial hemimelia	Isolated radial hemimelia
Concept	93322		Tibial hemimelia	Isolated tibial hemimelia
Concept	93323		Fibular hemimelia	Isolated fibular hemimelia
Concept	93324		Autosomal recessive Kenny-Caffey syndrome
Concept	93325		Autosomal dominant Kenny-Caffey syndrome
Concept	93328		Autosomal dominant omodysplasia
Concept	93329		Autosomal recessive omodysplasia
Concept	93333		Pelviscapular dysplasia
Concept	93334		Postaxial polydactyly type A
Concept	93335		Postaxial polydactyly type B
Concept	93336		Polydactyly of a triphalangeal thumb
Concept	93337		Polydactyly of an index finger
Concept	93338		Polysyndactyly
Concept	93339		Polydactyly of a biphalangeal thumb and/or hallux
Concept	93346		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Concept	93347		Anauxetic dysplasia
Concept	93349		X-linked spondyloepimetaphyseal dysplasia
Concept	93351		Spondyloepimetaphyseal dysplasia, Irapa type
Concept	93352		Spondyloepimetaphyseal dysplasia, Shohat type
Concept	93356		Spondyloepimetaphyseal dysplasia, Missouri type
Concept	93357		SPONASTRIME dysplasia
Concept	93358		Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Concept	93360		Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Concept	93372		Familial hypocalciuric hypercalcemia type 1
Concept	93382		Brachydactyly type A6
Concept	93383		Brachydactyly type B
Concept	93384		Brachydactyly type C
Concept	93387		Brachydactyly type E
Concept	93388		Brachydactyly type A1
Concept	93394		Brachydactyly type A4
Concept	93396		Brachydactyly type A2
Concept	93397		Brachydactyly type A7
Concept	93398		Genochondromatosis type 2
Concept	93399		Juvenile sialidosis type 2
Concept	93400		Congenital sialidosis type 2
Concept	93402		Syndactyly type 1
Concept	93403		Syndactyly type 2
Concept	93404		Syndactyly type 3
Concept	93405		Syndactyly type 4
Concept	93406		Syndactyly type 5
Concept	93409		Brachydactyly-syndactyly, Zhao type
Concept	93473		Hurler syndrome
Concept	93474		Scheie syndrome
Concept	93476		Hurler-Scheie syndrome
Concept	935		Short-limb skeletal dysplasia with severe combined immunodeficiency
Concept	93552		Pediatric systemic lupus erythematosus
Concept	93554		Mixed cryoglobulinemia type II
Concept	93555		Mixed cryoglobulinemia type III
Concept	93556		Heavy chain deposition disease
Concept	93557		Light and heavy chain deposition disease
Concept	93558		Light chain deposition disease
Concept	93560		AApoAI amyloidosis
Concept	93561		ALys amyloidosis
Concept	93562		AFib amyloidosis
Concept	93568		Juvenile polymyositis
Concept	93569		Version: Polymyalgia rheumatica		Removed this Concept
Concept	93571		Dense deposit disease
Concept	93581		Atypical hemolytic uremic syndrome with anti-factor H antibodies
Concept	93583		Congenital thrombotic thrombocytopenic purpura
Concept	93585		Immune-mediated thrombotic thrombocytopenic purpura
Concept	93589		Late-onset nephronophthisis
Concept	93591		Infantile nephronophthisis
Concept	93592		Juvenile nephronophthisis
Concept	93598		Primary hyperoxaluria type 1
Concept	93599		Primary hyperoxaluria type 2
Concept	93600		Primary hyperoxaluria type 3
Concept	93601		Xanthinuria type I
Concept	93602		Xanthinuria type II
Concept	93605		Bartter syndrome type 3
Concept	93606		Nephrogenic syndrome of inappropriate antidiuresis
Concept	93607		Autosomal recessive proximal renal tubular acidosis
Concept	93608		Autosomal dominant distal renal tubular acidosis
Concept	93610		Distal renal tubular acidosis with anemia
Concept	93612		Cystinuria type A
Concept	93613		Cystinuria type B
Concept	93616		Hemoglobin H disease
Concept	93622		Dent disease type 1
Concept	93623		Dent disease type 2
Concept	93672		Juvenile dermatomyositis
Concept	93685		Unicentric Castleman disease
Concept	939		3-hydroxyisobutyric aciduria
Concept	93921		Full schwannomatosis
Concept	93924		Lobar holoprosencephaly
Concept	93925		Alobar holoprosencephaly
Concept	93926		Midline interhemispheric variant of holoprosencephaly
Concept	93928		Isolated epispadias
Concept	93929		Cloacal exstrophy
Concept	93930		Bladder exstrophy
Concept	93932		FG syndrome type 1
Concept	93938		Laryngotracheoesophageal cleft type 1
Concept	93939		Laryngotracheoesophageal cleft type 2
Concept	93940		Laryngotracheoesophageal cleft type 3
Concept	93941		Laryngotracheoesophageal cleft type 4
Concept	93945		X-linked intellectual disability, Porteous type
Concept	93946		Hamel cerebro-palato-cardiac syndrome
Concept	93947		X-linked intellectual disability, Golabi-Ito-Hall type
Concept	93950		X-linked intellectual disability, Sutherland-Haan type
Concept	93952		X-linked intellectual disability, Hedera type
Concept	93953		Familial thyroglossal duct cyst
Concept	93958		Oromandibular dystonia
Concept	93964		Blepharospasm-oromandibular dystonia syndrome
Concept	93969		Open spinal dysraphism with a myelomeningocele
Concept	93976		Anotia
Concept	94056		Humero-ulnar synostosis	Isolated humero-ulnar synostosis
Concept	94058		Neovascular glaucoma
Concept	94059		Uremic pruritus
Concept	94063		12q14 microdeletion syndrome
Concept	94064		Deafness-infertility syndrome
Concept	94065		15q24 microdeletion syndrome
Concept	94066		Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Concept	94068		Spondyloepiphyseal dysplasia congenita
Concept	94080		Non-functioning paraganglioma
Concept	94083		Partington syndrome
Concept	94086		Blue diaper syndrome
Concept	94087		Cytophagic histiocytic panniculitis
Concept	94088		Hereditary renal hypouricemia
Concept	94089		Pseudohypoparathyroidism type 1B
Concept	94090		Pseudohypoparathyroidism type 2
Concept	94091		Mills syndrome
Concept	94093		Neuroleptic malignant syndrome
Concept	941		D-glyceric aciduria
Concept	94122		Cerebellar ataxia, Cayman type
Concept	94124		Spinocerebellar ataxia with axonal neuropathy type 1
Concept	94125		Recessive mitochondrial ataxia syndrome
Concept	94147		Spinocerebellar ataxia type 7
Concept	94150		Anonychia congenita totalis
Concept	943		Malonic aciduria
Concept	945		Acalvaria
Concept	949		Acrocraniofacial dysostosis
Concept	95		Friedreich ataxia
Concept	950		Acrodysostosis
Concept	95159		Hepatoerythropoietic porphyria
Concept	952		Acrofacial dysostosis, Weyers type
Concept	95232		Lissencephaly due to LIS1 mutation
Concept	95409		Acute adrenal insufficiency
Concept	95427		Secondary short bowel syndrome
Concept	95428		COG8-CDG
Concept	95429		Angioma serpiginosum
Concept	95430		Congenital tracheomalacia
Concept	95431		Twin to twin transfusion syndrome
Concept	95433		Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Concept	95434		Autosomal recessive cerebellar ataxia-movement disorder syndrome
Concept	95443		Mesocardia
Concept	95448		Congenital aortic valve atresia
Concept	95455		Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Concept	95457		Tricuspid valve agenesis
Concept	95459		Congenital tricuspid stenosis
Concept	95461		Straddling or overriding tricuspid valve
Concept	95462		Accessory tricuspid valve tissue
Concept	95465		Cleft mitral valve
Concept	95474		Double-orifice mitral valve
Concept	95486		Premature closure of the arterial duct
Concept	95491		Congenital coronary artery aneurysm
Concept	95494		Combined pituitary hormone deficiencies, genetic forms
Concept	95496		Pituitary stalk interruption syndrome
Concept	955		Hajdu-Cheney syndrome
Concept	95507		Congenital anomaly of hepatic vein
Concept	95512		Adenohypophysitis
Concept	95513		Panhypophysitis
Concept	95613		Pituitary apoplexy
Concept	95619		Post-traumatic pituitary deficiency
Concept	95626		Acquired central diabetes insipidus	Acquired arginine vasopressin deficiency
Concept	95699		Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Concept	957		Acropectorovertebral dysplasia
Concept	95700		Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Concept	95702		X-linked adrenal hypoplasia congenita
Concept	95706		Non-syndromic posterior hypospadias
Concept	95707		Idiopathic isolated micropenis
Concept	95712		Thyroid ectopia
Concept	95713		Athyreosis
Concept	95715		Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Concept	95716		Familial thyroid dyshormonogenesis
Concept	95717		Idiopathic congenital hypothyroidism
Concept	95719		Thyroid hemiagenesis
Concept	95720		Thyroid hypoplasia
Concept	958		Acro-renal-mandibular syndrome
Concept	95854		Levocardia
Concept	959		Acro-renal-ocular syndrome
Concept	96		Ataxia with vitamin E deficiency
Concept	96055		Tetrasomy 21
Concept	96059		Mosaic trisomy 4
Concept	96060		Mosaic trisomy 5
Concept	96061		Mosaic trisomy 8
Concept	96063		Mosaic trisomy 10
Concept	96068		Mosaic trisomy 22
Concept	96069		Distal duplication 1p36
Concept	96070		Distal duplication 2p
Concept	96071		Distal duplication 3p
Concept	96072		4p16.3 microduplication syndrome
Concept	96074		Distal duplication 7p
Concept	96076		Beckwith-Wiedemann syndrome due to 11p15 microduplication
Concept	96078		16p13.3 microduplication syndrome
Concept	96092		8p inverted duplication/deletion syndrome
Concept	96094		Distal duplication 2q
Concept	96095		3q26 microduplication syndrome
Concept	96096		Distal duplication 4q
Concept	96097		Distal duplication 5q
Concept	96098		Distal duplication 6q
Concept	96100		Distal duplication 8q
Concept	96101		Distal duplication 9q
Concept	96102		Distal duplication 10q
Concept	96103		Distal duplication 11q
Concept	96105		Distal duplication 13q
Concept	96106		Distal duplication 16q
Concept	96107		Distal duplication 20q
Concept	96109		Distal duplication 22q
Concept	96112		Non-distal duplication 9q
Concept	96121		7q11.23 microduplication syndrome
Concept	96123		Monosomy 22
Concept	96125		Distal deletion 6p
Concept	96126		Distal deletion 7p
Concept	96129		Distal deletion 19p
Concept	96145		Distal deletion 4q
Concept	96147		Kleefstra syndrome due to 9q34 microdeletion
Concept	96148		Distal deletion 10q
Concept	96149		Distal deletion 12q
Concept	96150		Distal deletion 14q
Concept	96160		Non-distal deletion 12q
Concept	96167		Recombinant 8 syndrome
Concept	96168		Monosomy 13q34
Concept	96169		Koolen-De Vries syndrome
Concept	96170		Emanuel syndrome
Concept	96171		Ring chromosome 2 syndrome
Concept	96172		Ring chromosome 3 syndrome
Concept	96173		Ring chromosome 9 syndrome
Concept	96175		Ring chromosome 11 syndrome
Concept	96176		Ring chromosome 13 syndrome
Concept	96177		Ring chromosome 15 syndrome
Concept	96178		Ring chromosome 16 syndrome
Concept	96179		Maternal uniparental disomy of chromosome 2
Concept	96180		Maternal uniparental disomy of chromosome 4
Concept	96181		Maternal uniparental disomy of chromosome 6
Concept	96182		Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Concept	96183		Maternal uniparental disomy of chromosome 9
Concept	96184		Temple syndrome due to maternal uniparental disomy of chromosome 14
Concept	96185		Maternal uniparental disomy of chromosome 16
Concept	96186		Maternal uniparental disomy of chromosome 20
Concept	96187		Maternal uniparental disomy of chromosome 21
Concept	96188		Maternal uniparental disomy of chromosome 22
Concept	96190		Paternal uniparental disomy of chromosome 5
Concept	96191		Paternal uniparental disomy of chromosome 6
Concept	96192		Paternal uniparental disomy of chromosome 7
Concept	96193		Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Concept	96194		Paternal uniparental disomy of chromosome 20
Concept	96195		Paternal uniparental disomy of chromosome 21
Concept	96201		X small rings
Concept	96253		Cushing disease
Concept	96263		48,XXXY syndrome
Concept	96264		49,XXXXY syndrome
Concept	96265		Leydig cell hypoplasia due to complete LH resistance
Concept	96266		Leydig cell hypoplasia due to partial LH resistance
Concept	96269		Isolated partial vaginal agenesis
Concept	963		Acromegaly
Concept	96334		Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Concept	968		Acromesomelic dysplasia, Hunter-Thompson type
Concept	969		Acromicric dysplasia
Concept	97		Familial paroxysmal ataxia
Concept	970		Hereditary sensory and autonomic neuropathy type 2
Concept	971		Acrorenal syndrome
Concept	972		Hereditary continuous muscle fiber activity
Concept	97214		Eisenmenger syndrome
Concept	97229		Riboflavin transporter deficiency
Concept	97230		Solar urticaria
Concept	97232		Fingerprint body myopathy
Concept	97234		Glycogen storage disease due to phosphoglycerate mutase deficiency
Concept	97238		Rippling muscle disease
Concept	97239		Reducing body myopathy
Concept	97240		Zebra body myopathy
Concept	97244		Rigid spine syndrome
Concept	97249		Pontocerebellar hypoplasia type 3
Concept	97252		Mega-cisterna magna
Concept	97261		GRFoma
Concept	97278		PPoma
Concept	97279		Insulinoma
Concept	97280		Glucagonoma
Concept	97282		VIPoma
Concept	97283		Somatostatinoma
Concept	97285		Thyroid lymphoma
Concept	97286		Carney-Stratakis syndrome
Concept	97287		Bronchial neuroendocrine tumor
Concept	97289		Thymic neuroendocrine tumor
Concept	97290		Familial papillary thyroid carcinoma with renal papillary neoplasia
Concept	97292		Cardiogenic shock
Concept	97297		Bohring-Opitz syndrome
Concept	973		Congenital absence/hypoplasia of fingers excluding thumb, unilateral	Isolated absence/hypoplasia of fingers excluding thumb, unilateral
Concept	97330		Thoracic outlet syndrome
Concept	97332		Kienbock disease
Concept	97335		Osgood-Schlatter disease
Concept	97336		Panner disease
Concept	97337		Sinding-Larsen-Johansson disease
Concept	97338		Melanoma of soft tissue
Concept	97339		Dural sinus malformation
Concept	97340		Hunter-McAlpine syndrome
Concept	97341		Persistent placoid maculopathy
Concept	97345		ABri amyloidosis
Concept	97346		ADan amyloidosis
Concept	97349		Postencephalitic parkinsonism
Concept	97352		Pellagra
Concept	97353		Dementia pugilistica
Concept	97355		Caribbean parkinsonism
Concept	97360		Robinow syndrome
Concept	97361		Renal hypoplasia, unilateral
Concept	97362		Renal hypoplasia, bilateral
Concept	97363		Unilateral multicystic dysplastic kidney
Concept	97364		Bilateral multicystic dysplastic kidney
Concept	97366		Multiloculated renal cyst
Concept	97367		Renal tubular dysgenesis due to twin-twin transfusion
Concept	97368		Drug-related renal tubular dysgenesis
Concept	97369		Renal tubular dysgenesis of genetic origin
Concept	974		Adams-Oliver syndrome
Concept	97548		Right sided atrial isomerism
Concept	97560		Primary membranous glomerulonephritis
Concept	97563		Pauci-immune glomerulonephritis with ANCA
Concept	97564		Pauci-immune glomerulonephritis without ANCA
Concept	97566		Non-amyloid fibrillary glomerulopathy
Concept	97567		Immunotactoid glomerulopathy
Concept	97598		Congenital renal artery stenosis
Concept	976		Adenine phosphoribosyltransferase deficiency
Concept	97678		Maternal uniparental disomy of chromosome 13
Concept	97685		17q11 microdeletion syndrome
Concept	977		Adrenomyodystrophy
Concept	978		ADULT syndrome
Concept	98		Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Concept	980		Absence of the pulmonary artery
Concept	981		Internal carotid absence
Concept	98267		Genetic non-syndromic obesity
Concept	983		Testicular regression syndrome
Concept	984		Pulmonary agenesis
Concept	98434		Hereditary combined deficiency of vitamin K-dependent clotting factors
Concept	98606		Syndromic orbital border hypoplasia
Concept	98619		Rare isolated myopia
Concept	98673		Autosomal dominant optic atrophy, classic form
Concept	98676		Autosomal recessive isolated optic atrophy
Concept	98686		Congenital trochlear nerve palsy
Concept	98754		Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Concept	98755		Spinocerebellar ataxia type 1
Concept	98756		Spinocerebellar ataxia type 2
Concept	98757		Spinocerebellar ataxia type 3
Concept	98758		Spinocerebellar ataxia type 6
Concept	98759		Spinocerebellar ataxia type 17
Concept	98760		Spinocerebellar ataxia type 8
Concept	98761		Spinocerebellar ataxia type 10
Concept	98762		Spinocerebellar ataxia type 12
Concept	98763		Spinocerebellar ataxia type 14
Concept	98764		Spinocerebellar ataxia type 27
Concept	98765		Spinocerebellar ataxia type 4
Concept	98766		Spinocerebellar ataxia type 5
Concept	98767		Spinocerebellar ataxia type 11
Concept	98768		Spinocerebellar ataxia type 13
Concept	98769		Spinocerebellar ataxia type 15/16
Concept	98771		Spinocerebellar ataxia type 18
Concept	98772		Spinocerebellar ataxia type 19/22
Concept	98773		Spinocerebellar ataxia type 21
Concept	98784		Autosomal dominant nocturnal frontal lobe epilepsy
Concept	98791		Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Concept	98793		Prader-Willi syndrome due to paternal 15q11q13 deletion
Concept	98794		Angelman syndrome due to maternal 15q11q13 deletion
Concept	98795		Angelman syndrome due to paternal uniparental disomy of chromosome 15
Concept	98797		Isochromosomy Yp
Concept	98798		Isochromosomy Yq
Concept	988		Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Concept	98805		Primary dystonia, DYT4 type
Concept	98806		Primary dystonia, DYT6 type
Concept	98807		Primary dystonia, DYT13 type
Concept	98808		Autosomal dominant dopa-responsive dystonia
Concept	98809		Paroxysmal kinesigenic dyskinesia
Concept	98810		Paroxysmal non-kinesigenic dyskinesia
Concept	98811		Paroxysmal exertion-induced dyskinesia
Concept	98813		Hypohidrotic ectodermal dysplasia with immunodeficiency
Concept	98815		Benign childhood occipital epilepsy, Panayiotopoulos type
Concept	98816		Benign childhood occipital epilepsy, Gastaut type
Concept	98818		Landau-Kleffner syndrome
Concept	98819		Familial temporal lobe epilepsy
Concept	98820		Familial focal epilepsy with variable foci
Concept	98823		Chronic myelomonocytic leukemia
Concept	98824		Atypical chronic myeloid leukemia
Concept	98825		Unclassified myelodysplastic/myeloproliferative disease
Concept	98826		Refractory anemia	Myelodysplastic neoplasm with low blasts
Concept	98827		Unclassified myelodysplastic syndrome
Concept	98829		Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Concept	98831		Acute myeloid leukemia with 11q23 abnormalities
Concept	98832		Acute myeloid leukemia with minimal differentiation
Concept	98833		Acute myeloblastic leukemia without maturation
Concept	98834		Acute myeloblastic leukemia with maturation
Concept	98835		Acute undifferentiated leukemia
Concept	98838		Primary mediastinal large B-cell lymphoma
Concept	98839		Intravascular large B-cell lymphoma
Concept	98841		Anaplastic large cell lymphoma
Concept	98842		Lymphomatoid papulosis
Concept	98843		Classic Hodgkin lymphoma, nodular sclerosis type
Concept	98844		Classic Hodgkin lymphoma, mixed cellularity type
Concept	98845		Classic Hodgkin lymphoma, lymphocyte-rich type
Concept	98846		Classic Hodgkin lymphoma, lymphocyte-depleted type
Concept	98848		Indolent systemic mastocytosis
Concept	98849		Systemic mastocytosis with associated hematologic neoplasm
Concept	98850		Aggressive systemic mastocytosis
Concept	98851		Mast cell leukemia
Concept	98852		Desquamative interstitial pneumonia
Concept	98853		Autosomal dominant Emery-Dreifuss muscular dystrophy
Concept	98855		Autosomal recessive Emery-Dreifuss muscular dystrophy
Concept	98856		Charcot-Marie-Tooth disease type 2B1
Concept	98863		X-linked Emery-Dreifuss muscular dystrophy
Concept	98868		Southeast Asian ovalocytosis
Concept	98869		Congenital dyserythropoietic anemia type I
Concept	98870		Congenital dyserythropoietic anemia type III
Concept	98871		Transient erythroblastopenia of childhood
Concept	98872		Primary acquired pure red cell aplasia
Concept	98873		Congenital dyserythropoietic anemia type II
Concept	98878		Hemophilia A
Concept	98879		Hemophilia B
Concept	98880		Familial afibrinogenemia
Concept	98881		Familial dysfibrinogenemia
Concept	98885		Bleeding diathesis due to glycoprotein VI deficiency
Concept	98886		Bleeding diathesis due to integrin alpha2-beta1 deficiency
Concept	98889		Bilateral perisylvian polymicrogyria
Concept	98890		Early-onset X-linked optic atrophy
Concept	98892		Periventricular nodular heterotopia
Concept	98893		Congenital muscular dystrophy type 1B
Concept	98895		Becker muscular dystrophy
Concept	98896		Duchenne muscular dystrophy
Concept	98897		Oculopharyngodistal myopathy
Concept	989		Hypoglossia-hypodactyly syndrome
Concept	98902		Amish nemaline myopathy
Concept	98904		Congenital myopathy with excess of thin filaments
Concept	98905		Congenital multicore myopathy with external ophthalmoplegia
Concept	98907		Neutral lipid storage disease with ichthyosis
Concept	98908		Neutral lipid storage myopathy	Neutral lipid storage disease with myopathy
Concept	98909		Desminopathy
Concept	98911		Distal myotilinopathy
Concept	98912		Late-onset distal myopathy, Markesbery-Griggs type
Concept	98913		Postsynaptic congenital myasthenic syndromes
Concept	98914		Presynaptic congenital myasthenic syndromes
Concept	98915		Synaptic congenital myasthenic syndromes
Concept	98916		Acute inflammatory demyelinating polyradiculoneuropathy
Concept	98917		Acute motor and sensory axonal neuropathy
Concept	98918		Acute motor axonal neuropathy
Concept	98919		Miller Fisher syndrome
Concept	98920		Spinal muscular atrophy with respiratory distress type 1
Concept	98922		Blake pouch cyst
Concept	98933		Multiple system atrophy, parkinsonian type
Concept	98934		Huntington disease-like 2
Concept	98938		Colobomatous microphthalmia
Concept	98942		Coloboma of choroid and retina
Concept	98943		Coloboma of eye lens
Concept	98944		Coloboma of iris
Concept	98945		Coloboma of macula
Concept	98946		Coloboma of eyelid
Concept	98947		Coloboma of optic disc
Concept	98948		Congenital symblepharon
Concept	98949		Complete cryptophthalmia
Concept	98950		Partial cryptophthalmia
Concept	98951		Inverse Marcus-Gunn phenomenon
Concept	98954		Meesmann corneal dystrophy
Concept	98955		Lisch epithelial corneal dystrophy
Concept	98956		Epithelial basement membrane dystrophy
Concept	98957		Gelatinous drop-like corneal dystrophy
Concept	98958		Climatic droplet keratopathy
Concept	98959		Subepithelial mucinous corneal dystrophy
Concept	98960		Thiel-Behnke corneal dystrophy
Concept	98961		Reis-Bücklers corneal dystrophy
Concept	98962		Granular corneal dystrophy type I
Concept	98963		Granular corneal dystrophy type II
Concept	98964		Lattice corneal dystrophy type I
Concept	98967		Schnyder corneal dystrophy
Concept	98969		Macular corneal dystrophy
Concept	98970		Fleck corneal dystrophy
Concept	98971		Posterior amorphous corneal dystrophy
Concept	98972		Central cloudy dystrophy of François
Concept	98973		Posterior polymorphous corneal dystrophy
Concept	98974		Fuchs endothelial corneal dystrophy
Concept	98975		Version: Congenital hereditary endothelial dystrophy type I		Removed this Concept
Concept	98976		Congenital glaucoma
Concept	98977		Juvenile glaucoma
Concept	98978		Axenfeld anomaly
Concept	98979		Chandler syndrome
Concept	98980		Cogan-Reese syndrome
Concept	98981		Essential iris atrophy
Concept	98984		Pulverulent cataract
Concept	98985		Early-onset sutural cataract
Concept	98988		Early-onset anterior polar cataract
Concept	98989		Cerulean cataract
Concept	98990		Coralliform cataract
Concept	98991		Early-onset nuclear cataract
Concept	98992		Early-onset partial cataract
Concept	98993		Early-onset posterior polar cataract
Concept	98994		Total early-onset cataract
Concept	98995		Early-onset zonular cataract
Concept	990		Agnathia-holoprosencephaly-situs inversus syndrome
Concept	99000		Adult-onset foveomacular vitelliform dystrophy
Concept	99001		Butterfly-shaped pigment dystrophy
Concept	99002		Reticular dystrophy of the retinal pigment epithelium
Concept	99003		Multifocal pattern dystrophy simulating fundus flavimaculatus
Concept	99004		Fundus pulverulentus
Concept	99013		Spastic paraplegia type 7
Concept	99014		X-linked Charcot-Marie-Tooth disease type 5
Concept	99015		Spastic paraplegia type 2
Concept	99027		Adult-onset autosomal dominant leukodystrophy
Concept	99042		Congenitally uncorrected transposition of the great arteries with coarctation
Concept	99043		Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
Concept	99045		Double outlet right ventricle with subpulmonary ventricular septal defect
Concept	99046		Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Concept	99048		Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Concept	99049		Pulmonary artery coming from patent ductus arteriosus
Concept	99050		Abnormal origin of right or left pulmonary artery from the aorta
Concept	99051		Discrete fixed membranous subaortic stenosis
Concept	99052		Discrete fibromuscular subaortic stenosis
Concept	99053		Tunnel subaortic stenosis
Concept	99054		Valvular pulmonary stenosis
Concept	99055		Congenital anomaly of the tricuspid valve chordae
Concept	99056		Parachute tricuspid valve
Concept	99057		Congenital mitral stenosis
Concept	99058		Hypoplasia of the mitral valve annulus
Concept	99059		Congenital supravalvular mitral ring
Concept	99060		Congenital unguarded mitral orifice
Concept	99061		Accessory mitral valve tissue
Concept	99062		Mitral valve agenesis
Concept	99063		Shone complex
Concept	99064		Straddling and/or overriding mitral valve
Concept	99067		Complete atrioventricular septal defect with ventricular hypoplasia
Concept	99068		Complete atrioventricular septal defect-tetralogy of Fallot
Concept	99070		Aorto-right ventricular tunnel
Concept	99071		Aorto-left ventricular tunnel
Concept	99072		Congenital patent ductus arteriosus aneurysm
Concept	99075		Encircling double aortic arch
Concept	99076		Persistent fifth aortic arch
Concept	99077		Kommerell diverticulum
Concept	99078		Neuhauser anomaly
Concept	99079		Cervical aortic arch
Concept	99081		Right aortic arch
Concept	99082		Dysphagia lusoria
Concept	99083		Pulmonary artery hypoplasia
Concept	99084		Peripheral pulmonary stenosis
Concept	99087		Coronary ostial stenosis or atresia
Concept	99089		Abnormal number of coronary ostia
Concept	99090		Malposition of a coronary ostium
Concept	99092		Interventricular septum aneurysm
Concept	99094		Laubry-Pezzi syndrome
Concept	99095		Congenital Gerbode defect
Concept	99098		Cor triatriatum dexter
Concept	99099		Cor triatriatum sinister
Concept	991		PAGOD syndrome
Concept	99100		Juxtaposition of the atrial appendages
Concept	99101		Ectasia of the right atrial appendage
Concept	99102		Ectasia of the left atrial appendage
Concept	99103		Atrial septal defect, ostium secundum type
Concept	99104		Atrial septal defect, coronary sinus type
Concept	99105		Atrial septal defect, sinus venosus type
Concept	99106		Atrial septal defect, ostium primum type
Concept	99107		Atrial septal aneurysm
Concept	99109		Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
Concept	99110		Right superior vena cava connecting to left-sided atrium
Concept	99111		Persistent left superior vena cava connecting to the roof of left-sided atrium
Concept	99112		Absence of innominate vein
Concept	99113		Subaortic course of innominate vein
Concept	99114		Agenesis of the superior vena cava
Concept	99117		Coronary sinus stenosis
Concept	99118		Coronary sinus atresia
Concept	99119		Right inferior vena cava connecting to left-sided atrium
Concept	99120		Persistent eustachian valve
Concept	99121		Azygos continuation of the inferior vena cava
Concept	99122		Congenital stenosis of the inferior vena cava
Concept	99123		Inferior vena cava interruption without azygos continuation
Concept	99124		Congenital partial pulmonary venous return anomaly
Concept	99125		Congenital total pulmonary venous return anomaly
Concept	99126		Congenital pulmonary vein atresia
Concept	99129		Congenital complete agenesis of pericardium
Concept	99130		Congenital partial agenesis of pericardium
Concept	99131		Pleuro-pericardial cyst
Concept	99135		6-phosphogluconate dehydrogenase deficiency
Concept	99138		Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Concept	99139		Unstable hemoglobin disease
Concept	99141		Lymphedema-posterior choanal atresia syndrome
Concept	99147		Acquired von Willebrand syndrome
Concept	99169		Epiblepharon
Concept	99170		Tarsal kink syndrome
Concept	99171		Isolated congenital ectropion
Concept	99172		Euryblepharon
Concept	99176		Congenital eyelid retraction
Concept	99177		Isolated distichiasis
Concept	99179		Kandori fleck retina
Concept	99226		Monosomy X
Concept	99228		Mosaic monosomy X
Concept	99324		Paternal uniparental disomy of chromosome 13
Concept	99329		48,XYYY syndrome
Concept	99330		49,XYYYY syndrome
Concept	99361		Familial medullary thyroid carcinoma
Concept	994		Fetal akinesia deformation sequence
Concept	99413		Turner syndrome due to structural X chromosome anomalies
Concept	99429		Complete androgen insensitivity syndrome
Concept	99642		Spondyloepimetaphyseal dysplasia, Handigodu type
Concept	99646		Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Concept	99647		Version: Cheirospondyloenchondromatosis		Removed this Concept
Concept	99657		Primary dystonia, DYT2 type
Concept	99672		Fried's tooth and nail syndrome
Concept	99688		Dermotrichic syndrome
Concept	99701		Mesial temporal lobe epilepsy with hippocampal sclerosis
Concept	99704		Early-onset obesity-hyperphagia-severe developmental delay syndrome
Concept	99710		Punctate acrokeratoderma freckle-like pigmentation
Concept	99718		Leber plus disease
Concept	99725		Pituitary gigantism
Concept	99731		Isolated sulfite oxidase deficiency
Concept	99732		Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Concept	99734		Myotonia fluctuans
Concept	99735		Myotonia permanens
Concept	99736		Acetazolamide-responsive myotonia
Concept	99741		King-Denborough syndrome
Concept	99742		Amish lethal microcephaly
Concept	99745		Typhoid
Concept	99748		Pontiac fever
Concept	99749		Kostmann syndrome
Concept	99750		Atypical progressive supranuclear palsy syndrome
Concept	99756		Alveolar rhabdomyosarcoma
Concept	99757		Embryonal rhabdomyosarcoma
Concept	99771		Bifid uvula
Concept	99772		Cleft velum
Concept	99776		Mosaic trisomy 9
Concept	99789		Dentin dysplasia type I
Concept	99791		Dentin dysplasia type II
Concept	99792		Dentin dysplasia-sclerotic bones syndrome
Concept	99796		Subcortical band heterotopia
Concept	99797		Anodontia
Concept	99798		Oligodontia
Concept	998		Albinism-deafness syndrome
Concept	99802		Hemimegalencephaly
Concept	99803		Haddad syndrome
Concept	99806		Oculootodental syndrome
Concept	99807		PEHO-like syndrome
Concept	99810		Familial porencephaly
Concept	99811		Neuronal intestinal pseudoobstruction
Concept	99812		LIG4 syndrome
Concept	99818		Turcot syndrome with polyposis
Concept	99819		Familial gestational hyperthyroidism
Concept	99824		Lassa fever
Concept	99825		Nipah virus disease
Concept	99826		Marburg hemorrhagic fever
Concept	99827		Crimean-Congo hemorrhagic fever
Concept	99828		Dengue fever
Concept	99829		Yellow fever
Concept	99832		Resistance to thyrotropin-releasing hormone syndrome
Concept	99842		Leukocyte adhesion deficiency type I
Concept	99843		Leukocyte adhesion deficiency type II
Concept	99844		Leukocyte adhesion deficiency type III
Concept	99845		Genetic recurrent myoglobinuria
Concept	99846		Autosomal dominant myoglobinuria
Concept	99849		Glycogen storage disease due to muscle beta-enolase deficiency
Concept	99852		Ravine syndrome
Concept	99853		Ovarioleukodystrophy
Concept	99854		Cree leukoencephalopathy
Concept	99856		Primary syringomyelia
Concept	99857		Secondary syringomyelia
Concept	99858		Idiopathic syringomyelia
Concept	99860		Precursor B-cell acute lymphoblastic leukemia
Concept	99861		Precursor T-cell acute lymphoblastic leukemia
Concept	99865		Spermatocytic seminoma
Concept	99867		Thymoma
Concept	99868		Thymic carcinoma
Concept	99869		Thymic neuroendocrine carcinoma
Concept	99879		Familial isolated hyperparathyroidism
Concept	99880		Hyperparathyroidism-jaw tumor syndrome
Concept	99885		Isolated permanent neonatal diabetes mellitus
Concept	99886		Transient neonatal diabetes mellitus
Concept	99887		Acute megakaryoblastic leukemia in Down syndrome	Acute megakaryoblastic leukemia in children with Down syndrome
Concept	99889		Cushing syndrome due to ectopic ACTH secretion
Concept	99898		Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Concept	999		Ermine phenotype
Concept	99901		Acyl-CoA dehydrogenase 9 deficiency
Concept	99903		Spirillary rat-bite fever
Concept	99905		Streptobacillary rat-bite fever
Concept	99906		Farmer's lung disease
Concept	99907		House allergic alveolitis
Concept	99908		Pigeon-breeder lung disease
Concept	99912		Malignant dysgerminomatous germ cell tumor of the ovary	Ovarian dysgerminoma
Concept	99914		Gynandroblastoma
Concept	99915		Maligant granulosa cell tumor of the ovary	Malignant granulosa cell tumor of the ovary
Concept	99916		Malignant Sertoli-Leydig cell tumor of the ovary
Concept	99917		Theca steroid-producing cell malignant tumor of ovary, not further specified
Concept	99918		Streptococcal toxic-shock syndrome
Concept	99919		Staphylococcal toxic-shock syndrome
Concept	99920		Acute graft versus host disease
Concept	99921		Chronic graft versus host disease
Concept	99922		Ocular cicatricial pemphigoid
Concept	99925		Invasive mole
Concept	99926		Gestational choriocarcinoma
Concept	99927		Hydatidiform mole
Concept	99928		Placental site trophoblastic tumor
Concept	99930		Secondary pulmonary hemosiderosis
Concept	99931		Idiopathic pulmonary hemosiderosis
Concept	99932		Heiner syndrome
Concept	99933		Pleuropulmonary blastoma type 1
Concept	99934		Pleuropulmonary blastoma type 2
Concept	99935		Pleuropulmonary blastoma type 3
Concept	99936		Autosomal dominant Charcot-Marie-Tooth disease type 2B
Concept	99937		Autosomal dominant Charcot-Marie-Tooth disease type 2C
Concept	99938		Autosomal dominant Charcot-Marie-Tooth disease type 2D
Concept	99939		Autosomal dominant Charcot-Marie-Tooth disease type 2E
Concept	99940		Autosomal dominant Charcot-Marie-Tooth disease type 2F
Concept	99941		Autosomal dominant Charcot-Marie-Tooth disease type 2G
Concept	99942		Autosomal dominant Charcot-Marie-Tooth disease type 2I
Concept	99943		Autosomal dominant Charcot-Marie-Tooth disease type 2J
Concept	99944		Autosomal dominant Charcot-Marie-Tooth disease type 2K
Concept	99945		Autosomal dominant Charcot-Marie-Tooth disease type 2L
Concept	99946		Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Concept	99947		Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Concept	99948		Charcot-Marie-Tooth disease type 4A
Concept	99949		Charcot-Marie-Tooth disease type 4C
Concept	99950		Charcot-Marie-Tooth disease type 4D
Concept	99951		Charcot-Marie-Tooth disease type 4E
Concept	99952		Charcot-Marie-Tooth disease type 4F
Concept	99953		Charcot-Marie-Tooth disease type 4G
Concept	99954		Charcot-Marie-Tooth disease type 4H
Concept	99955		Charcot-Marie-Tooth disease type 4B1
Concept	99956		Charcot-Marie-Tooth disease type 4B2
Concept	99960		Benign recurrent intrahepatic cholestasis type 1
Concept	99961		Benign recurrent intrahepatic cholestasis type 2
Concept	99965		O'Sullivan-McLeod syndrome
Concept	99966		Atypical teratoid rhabdoid tumor
Concept	99967		Myxoid/round cell liposarcoma
Concept	99969		Pleomorphic liposarcoma
Concept	99970		Dedifferentiated liposarcoma
Concept	99971		Well-differentiated liposarcoma
Concept	99976		Adenocarcinoma of the esophagus
Concept	99977		Squamous cell carcinoma of the esophagus
Concept	99978		Klatskin tumor
Concept	99981		Apnea of prematurity
Concept	99989		Intermediate DEND syndrome
Concept	99990		Brill-Zinsser disease
Concept	99991		Relapsing epidemic typhus
Concept	99994		Complex regional pain syndrome type 2
Concept	99995		Complex regional pain syndrome type 1
Concept		1239		Version: Behr syndrome	Added this Concept
Concept		34145		Version: Immunoglobulin A nephropathy	Added this Concept
Concept		271861		Version: Hereditary ATTR amyloidosis	Added this Concept
Concept		652487		Version: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome	Added this Concept
Concept		652514		Version: Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation	Added this Concept
Concept		652519		Version: Cleft palate-congenital heart defect-intellectual disability syndrome	Added this Concept
Concept		652522		Version: Periodic fever-immunodeficiency-thrombocytopenia syndrome	Added this Concept
Concept		652528		Version: Non-syndromic supernumerary kidneys	Added this Concept
Concept		652532		Version: Adult-onset progressive leukoencephalopathy-early-onset deafness	Added this Concept
Concept		652650		Version: Nodal T-follicular helper cell lymphoma, follicular type	Added this Concept
Concept		652658		Version: Monomorphic epitheliotropic intestinal T-cell lymphoma	Added this Concept
Concept		652668		Version: Primary superior vena cava aneurysm	Added this Concept
Concept		652678		Version: Primary inferior vena cava aneurysm	Added this Concept
Concept		652681		Version: Idiopathic subglottic stenosis	Added this Concept
Concept		653698		Version: Lymphocytic mastitis	Added this Concept
Concept		653709		Version: Cone rod dystrophy-short stature syndrome	Added this Concept
Concept		653712		Version: CHD4-related neurodevelopmental disorder	Added this Concept
Concept		653722		Version: Digenic Alport syndrome	Added this Concept
Concept		653725		Version: Autosomal recessive limb-girdle muscular dystrophy, type 28	Added this Concept
Concept		653728		Version: Congenital insensitivity to pain syndrome, Marsili type	Added this Concept
Concept		653751		Version: X-linked combined immunodeficiency due to SASH3 deficiency	Added this Concept
Concept		653767		Version: Jansen-de Vries syndrome	Added this Concept
Concept		653880		Version: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	Added this Concept
Concept		656071		Version: Atrophic papulosis	Added this Concept
Concept		656085		Version: Benign atrophic papulosis	Added this Concept
Concept		656126		Version: Segmental spinal dysgenesis	Added this Concept
Concept		656130		Version: PBX1-related congenital anomalies of kidney and urinary tract syndrome	Added this Concept
Concept		656135		Version: Intellectual disability-cupped ears syndrome	Added this Concept
Concept		656279		Version: 1p36.33 duplication syndrome	Added this Concept
Concept		656283		Version: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	Added this Concept
Concept		656300		Version: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency	Added this Concept
Concept		656313		Version: Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency	Added this Concept
Concept		656326		Version: Autosomal recessive combined immunodeficiency due to IL6R deficiency	Added this Concept
Concept		656417		Version: Embryonal tumor with multilayered rosettes	Added this Concept
Concept		656912		Version: Autosomal dominant combined immunodeficiency due to ERBIN deficiency	Added this Concept
Concept		658540		Version: 16q22 deletion syndrome	Added this Concept
Concept		658549		Version: Idiopathic small fibers neuropathy	Added this Concept
Concept		658574		Version: Isolated pulmonary artery sling	Added this Concept
Concept		658584		Version: Rowell syndrome	Added this Concept
Concept		658590		Version: Eyelid sebaceous carcinoma	Added this Concept
Concept		658595		Version: DNMT3A-related microcephalic dwarfism	Added this Concept
Concept		658602		Version: Transplant-related bronchiolitis obliterans	Added this Concept
Concept		658612		Version: Non-transplant-related bronchiolitis obliterans	Added this Concept
Concept		658778		Version: COQ7-related distal hereditary motor neuropathy	Added this Concept
Concept		658805		Version: Greig cephalopolysyndactyly-contiguous gene syndrome	Added this Concept
Concept		658810		Version: Atrophoderma of Pasini and Pierini	Added this Concept
Concept		658813		Version: Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	Added this Concept
Concept		658843		Version: Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome	Added this Concept
Concept		658909		Version: Fasciolopsiasis	Added this Concept
Concept		658913		Version: Paragonimiasis	Added this Concept
Concept		658917		Version: Clonorchiasis	Added this Concept
Concept		658946		Version: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency	Added this Concept
Concept		658951		Version: Early-onset immune dysregulation due to DOCK11 complete deficiency	Added this Concept
Concept		659396		Version: Cohen-Gibson syndrome	Added this Concept
Concept		659463		Version: Imagawa-Matsumoto syndrome	Added this Concept
Concept		659609		Version: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome	Added this Concept
Concept		659626		Version: Single isolated optic neuritis	Added this Concept
Concept		659634		Version: Relapsing isolated optic neuritis	Added this Concept
Concept		659642		Version: Rauch-Steindl syndrome	Added this Concept
Concept		659672		Version: Harderoporphyria	Added this Concept
Concept		659702		Version: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome	Added this Concept
Concept		659707		Version: Yersinia pseudotuberculosis infection	Added this Concept
Concept		659744		Version: Ocular surface squamous neoplasia	Added this Concept
Concept		659756		Version: Oroya fever	Added this Concept
Concept		659759		Version: Verruga peruana	Added this Concept
Concept		659873		Version: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	Added this Concept
Concept		659904		Version: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome	Added this Concept
Concept		659908		Version: Glanders	Added this Concept
Concept		659975		Version: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome	Added this Concept
Concept		660012		Version: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation	Added this Concept
Concept		660017		Version: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome	Added this Concept
Concept		660021		Version: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome	Added this Concept
Concept		660053		Version: Psittacosis	Added this Concept
Concept		661412		Version: Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency	Added this Concept
Concept		661526		Version: MBD4-related tumor predisposition syndrome	Added this Concept
Concept		662169		Version: Phelan-McDermid syndrome due to 22q13.3 deletion	Added this Concept
Concept		662172		Version: Phelan-McDermid syndrome due to SHANK3 mutation	Added this Concept
Concept		662175		Version: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome	Added this Concept
Concept		662179		Version: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome	Added this Concept
Concept		662184		Version: Congenital muscular dystrophy-cataract-intellectual disability syndrome	Added this Concept
Concept		662189		Version: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome	Added this Concept
Concept		662198		Version: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome	Added this Concept
Concept		662207		Version: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome	Added this Concept
Concept		662216		Version: Mucopolysaccharidosis type 10	Added this Concept
Concept		662229		Version: Episodic memory defect leukoencephalopathy	Added this Concept
Concept		662234		Version: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome	Added this Concept
Concept		662240		Version: Frey syndrome	Added this Concept
Concept		662255		Version: Grisel syndrome	Added this Concept
Concept		662367		Version: NESCAV syndrome	Added this Concept
Concept		662376		Version: Gastric duplication	Added this Concept
Concept		662388		Version: Gallbladder duplication	Added this Concept
Concept		662392		Version: Colonic duplication	Added this Concept
Concept		662405		Version: Pyloric duplication	Added this Concept
Concept		662456		Version: Small intestine duplication	Added this Concept
Concept		662473		Version: Duodenal duplication	Added this Concept
Concept		662480		Version: Jujeno-ileal duplication	Added this Concept
Concept		662721		Version: Placenta accreta spectrum disorder	Added this Concept
Concept		662762		Version: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome	Added this Concept
Concept		662786		Version: Vasa previa	Added this Concept
Concept		662829		Version: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome	Added this Concept
Concept		662934		Version: Acute megakaryoblastic leukemia in adult	Added this Concept
Concept		664372		Version: Soft and hard cleft palate	Added this Concept
Concept		664377		Version: MGP-related spondyloepiphyseal dysplasia	Added this Concept
Concept		664401		Version: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation	Added this Concept
Concept		664404		Version: 6q25.1 microdeletion syndrome	Added this Concept
Concept		664410		Version: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome	Added this Concept
Concept		664416		Version: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation	Added this Concept
Concept		664430		Version: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome	Added this Concept
Concept		664438		Version: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome	Added this Concept
Concept		664500		Version: Hermansky-Pudlak syndrome due to AP3B1 deficiency	Added this Concept
Concept		664511		Version: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency	Added this Concept
Concept		664699		Version: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency	Added this Concept
Concept		664711		Version: EBV-induced lymphoproliferative disease due to PRKCD deficiency	Added this Concept
Concept		664726		Version: EBV-induced lymphoproliferative disease due to CD137 deficiency	Added this Concept
Concept		664729		Version: EBV-induced lymphoproliferative disease due to TET2 deficiency	Added this Concept
Concept		664787		Version: Nicolau syndrome	Added this Concept
Concept		664901		Version: Trigeminal trophic syndrome	Added this Concept
Concept		664912		Version: Neonatal renal venous thrombosis	Added this Concept
Concept		664923		Version: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome	Added this Concept
Concept		665044		Version: Common arterial trunk with aortic dominance	Added this Concept
Concept		665058		Version: Common arterial trunk with pulmonary dominance and interrupted aortic arch	Added this Concept
Concept		667589		Version: Isolated congenital femoral bifurcation	Added this Concept
Concept		667662		Version: Breast implant-associated anaplastic large cell lymphoma	Added this Concept
Concept		667678		Version: Intraoral basal cell carcinoma	Added this Concept
Concept		672979		Version: Craniosynostosis-facial dysmorphism-brachydactyly syndrome	Added this Concept
Concept		672985		Version: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome	Added this Concept
Concept		673525		Version: Intravascular papillary endothelial hyperplasia	Added this Concept
Concept		673538		Version: Littoral cell hemangioma of the spleen	Added this Concept
Concept		673543		Version: Papillary hemangioma	Added this Concept
Concept		673556		Version: Pseudomyogenic hemangioendothelioma	Added this Concept
Concept		673568		Version: Eccrine angiomatous hamartoma	Added this Concept
Concept		673574		Version: Reactive angioendotheliomatosis	Added this Concept
Concept		673580		Version: Classic pilocytic astrocytoma	Added this Concept
Concept		673585		Version: Pilocytic astrocytoma with histological features of anaplasia	Added this Concept
Concept		674653		Version: Actinomyopathy-associated syndromic thrombocytopenia	Added this Concept
Concept		674762		Version: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency	Added this Concept
Concept		674924		Version: Isolated retinal racemose hemangioma	Added this Concept
Concept		674930		Version: Perifoveal exudative vascular anomalous complex	Added this Concept
Concept		674935		Version: Torpedo Maculopathy	Added this Concept
Concept		674943		Version: Isolated angioid streaks	Added this Concept
Concept		674947		Version: Diffuse unilateral subacute neuroretinitis	Added this Concept
Concept		674953		Version: Multiple evanescent white dot syndrome	Added this Concept
Concept		674958		Version: Stellate multiform amelanotic choroidopathy	Added this Concept
Concept		674965		Version: Choroidal osteoma	Added this Concept
Concept		674968		Version: Bilateral diffuse uveal melanocytic proliferation disease	Added this Concept
Concept		675216		Version: Spinocerebellar ataxia type 27B	Added this Concept
Concept		675359		Version: Anastomosing haemangioma	Added this Concept
Concept		675362		Version: Hobnail hemangioma	Added this Concept
Concept		675369		Version: Microvenular haemangioma	Added this Concept
Concept		675380		Version: Isolated segmental infantile hemangioma	Added this Concept
Concept		675396		Version: Epithelioid hemangioma	Added this Concept
Concept		675404		Version: May-Thurner syndrome	Added this Concept
Concept		675597		Version: Acquired elastotic haemangioma	Added this Concept
Concept		675628		Version: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome	Added this Concept
Concept		675767		Version: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency	Added this Concept
Concept		675775		Version: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome	Added this Concept
Concept		675782		Version: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN	Added this Concept
Concept		675814		Version: Adenomatoid tumour of the pleura	Added this Concept
Concept		675822		Version: Well-differentiated papillary mesothelial tumour of the pleura	Added this Concept
Concept		675833		Version: Localized pleural mesothelioma	Added this Concept
Concept		675837		Version: Diffused pleural mesothelioma	Added this Concept
Concept		675841		Version: Pleural mesothelioma in situ	Added this Concept
Concept		675976		Version: Adenomatoid tumour of the peritoneum	Added this Concept
Concept		676033		Version: Well-differentiated papillary mesothelial tumour of the peritoneum	Added this Concept
Concept		676036		Version: Peritoneal mesothelioma in situ	Added this Concept
Concept		676039		Version: Combined immunodeficiency due to FOXN1 haploinsufficiency	Added this Concept
Concept		676125		Version: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency	Added this Concept