Congenital disease 66091009 SNOMED CT code SNOMED code 66091009 name Congenital disease status active date introduced 2002-01-31 fully specified name(s) Congenital disease (disorder) synonyms Congenital disease Congenital disorder attributes - group1 Occurrence Congenital 255399007 parents Disease 64572001 children 2-hydroxyglutaric aciduria 698870008 [X]Additional congenital disease classification terms 205844000 removed: 2009-01-31 [X]Other specified congenital malformations of integument 205980001 removed: 2009-01-31 Abnormal tooth eruption 42510009 removed: 2005-01-31 Action myoclonus renal failure syndrome 764453009 Amyotonia congenita 63135006 Anophthalmos of left eye 15665561000119100 Anophthalmos of right eye 450931000124100 Asexual dwarfism 7530009 Autosomal dominant congenital benign spinal muscular atrophy 763067000 Autosomal dominant hyperinsulinism due to SUR1 deficiency 717046003 Autosomal dominant keratitis 715339004 Autosomal dominant secondary polycythemia 783202008 Autosomal dominant sideroblastic anemia 1148914007 Autosomal dominant slowed nerve conduction velocity 764854006 Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome 763312008 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 783768006 Autosomal recessive hyperinsulinism due to SUR1 deficiency 783767001 Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene 783766005 Autosomal recessive sideroblastic anemia 717050005 Benign congenital hypotonia 240080003 Biallelic RPE65 mutation associated retinal dystrophy 764969006 Biermer's congenital pernicious anemia 234362006 Biotin-thiamine-responsive basal ganglia disease 703522009 Cap myopathy 703532002 Carney Stratakis syndrome 722377004 Charcot-Marie-Tooth disease type 4 715795005 Chronic diarrhea due to glucoamylase deficiency 716277000 Chuvash erythrocytosis 770407006 CNS/head/neck congenital anomaly NOS 288247004 removed: 2010-01-31 Combined pancreatic lipase and colipase deficiency 763212006 Combined pituitary hormone deficiency genetic form 718182008 Congenital absence of entire right hand 15669441000119103 Congenital absence of left external ear 15983111000119107 Congenital absence of left ovary 15932261000119100 Congenital absence of right external ear 15983191000119103 Congenital absence of right ovary 15932221000119105 Congenital absence of soft tissue of distal phalanx of finger 450441000124103 Congenital accessory skin tag 84449007 Congenital achalasia of esophagus 700283004 Congenital adrenogenital syndrome 190511001 removed: 2015-01-31 Congenital alpha-2-antiplasmin deficiency 716746003 Congenital analbuminemia 718721006 Congenital anemia 63565007 Congenital anomaly 443341004 removed: 2014-07-31 Congenital atrophy of left lobe of liver 204788008 Congenital atrophy of optic nerve 722990003 Congenital atrophy of thyroid 237517001 Congenital auditory imperception 229748008 Congenital axial myopia 232134006 Congenital axonal neuropathy with encephalopathy 1237626001 Congenital benign giant pigmented nevus of skin 1187209002 Congenital blocked tear duct of left eye 15630451000119101 Congenital blocked tear duct of right eye 15630491000119106 Congenital brain damage 95610008 Congenital calcium pyrophosphate dihydrate crystal deposition disease 713869000 Congenital cardiovascular disorder 762228008 Congenital cardiovascular disorders during pregnancy, childbirth and the puerperium 267207004 Congenital central hypoventilation 399040002 Congenital cerebellar cortical atrophy 371313002 Congenital chalasia of esophagus 721154006 Congenital chondrolysis 1153394005 Congenital chromosomal disease 74345006 Congenital chronic diarrhea with protein-losing enteropathy 773579007 Congenital coloboma of iris of left eye 15665761000119107 Congenital coloboma of iris of right eye 15665681000119108 Congenital color blindness 232148006 Congenital connective tissue disorder 363039000 Congenital contracture of left gastrocnemius muscle 15670321000119101 Congenital contracture of right gastrocnemius muscle 15670281000119106 Congenital cutaneous angiomatosis 73716000 Congenital cyst of fallopian tube 93048002 removed: 2018-07-31 Congenital cyst of vulva 31339007 Congenital dacryocele 726334003 Congenital deficiency of alpha-fetoprotein 716698007 Congenital deficiency of intrinsic factor 234361004 Congenital diffuse lipomatosis 238904008 Congenital dislocation of head of left radius 15669961000119108 Congenital dislocation of head of right radius 15670001000119108 Congenital dislocation of left knee 15670801000119104 Congenital dislocation of right knee 15670841000119102 Congenital disorder of facial nerve 230541001 Congenital disorder of gallbladder and biliary tract 235913009 Congenital diverticulitis of small intestine 721646008 Congenital dysarthria 230785002 Congenital dysphasia 230786001 Congenital epignathus 897277000 Congenital facial asymmetry 13851000119109 Congenital failure of eye elevation 230529008 Congenital fecaliths causing obstruction 206529002 Congenital fibrinogen abnormality 234456000 Congenital folate malabsorption anemia 191146005 Congenital functional disorders of the colon 253778009 Congenital functional disorders of the small intestine 253767001 Congenital genu recurvatum of right knee 15671121000119107 Congenital glaucoma 204113001 Congenital hamartoma 399960008 Congenital hamartosis 75523000 removed: 2014-07-31 Congenital hearing disorder 95827002 Congenital hernia of urinary bladder 205022009 Congenital horizontal gaze palsy 1217622009 Congenital Horner syndrome 770626007 Congenital hypertonia 206588008 Congenital hypogonadotropic hypogonadism 722944006 Congenital hypothyroidism 190268003 Congenital ichthyosiform erythroderma 254156001 Congenital immunodeficiency disease 36138009 Congenital infection caused by Lymphocytic choriomeningitis virus 1163118004 Congenital infectious disease 82353009 Congenital insensitivity to pain with severe intellectual disability 1237623009 Congenital instability of hip joint 271015004 Congenital ischemic atrophy of central nervous system structure 31076000 Congenital isolated adrenocorticotropic hormone deficiency 1231283007 Congenital keratoderma 6874009 Congenital kyphosis of cervical spine 305111000119100 Congenital lactase deficiency 5388008 Congenital laryngeal abductor palsy 232442001 Congenital laryngeal adductor palsy 232443006 Congenital laryngeal cyst 765763007 Congenital leptomeningeal angiomatosis 79801002 Congenital lethal erythroderma 722391005 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 722392003 Congenital male infertility 236790005 Congenital malformation 276654001 Congenital malignant melanoma 402559007 Congenital malposition of tongue 1085631000119103 Congenital megaprepuce 452771000124100 Congenital melanosis 86042009 Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization 725592009 Congenital meningocele 172069000 Congenital methemoglobinemia 267550008 Congenital misshapen left external ear 15984351000119109 Congenital misshapen right external ear 15984311000119108 Congenital monocular elevator palsy 1217640008 Congenital monosaccharide malabsorption 450849003 Congenital myasthenic syndrome 230672006 Congenital nasopharyngeal teratoma 1003468008 Congenital nephritis 276585000 Congenital nephrotic syndrome due to congenital infection 722118005 Congenital nephrotic syndrome due to diffuse mesangial sclerosis 722369003 Congenital nephrotic syndrome with focal glomerulosclerosis 236384008 Congenital neutrophil actin dysfunction 40145002 Congenital non-progressive ataxia 278509004 Congenital nystagmus 64635004 Congenital oculomotor nerve palsy 1217207008 Congenital osteodystrophy 5731000119108 Congenital palato-esophageal incoordination 253758001 Congenital pancreatic trypsin deficiency 54119007 Congenital paraplegia 192949002 Congenital pes planus of left foot 15630371000119103 Congenital plasminogen activator inhibitor deficiency type 1 717407006 Congenital pneumonia 78895009 Congenital porphyria 190913009 Congenital primary adrenocortical hypofunction 12427005 Congenital pseudobulbar palsy 230784003 Congenital pseudopapilledema 1231686007 Congenital pseudoporencephaly 48376004 Congenital pseudostrabismus 348971000119105 Congenital pulmonary alveolar proteinosis 707442002 Congenital pyloric spasm 204670005 Congenital quadriplegia 275468009 Congenital renal atrophy 204941003 Congenital renal cyst 369071000119105 Congenital retroversion of left femur 453361000124103 Congenital retroversion of right femur 15669841000119100 Congenital scoliosis due to bony malformation 205045003 Congenital secretory diarrhea 25898005 Congenital sensory neuropathy with selective loss of small myelinated fibers 128206006 Congenital sequelae of disorders 363042006 Congenital sixth nerve palsy 400945000 Congenital spastic foot 230779009 Congenital stenosis 702670001 removed: 2019-07-31 Congenital talipes equinovarus 1156475005 Congenital thrombocytopenia 737221003 Congenital tremor syndrome 59704003 removed: 2014-01-31 Congenital trigeminal anesthesia 763218005 Congenital trochlear nerve palsy 1204418008 Congenital uremia 276627004 Congenital velopharyngeal dysfunction 700285006 Congenital vocal cord palsy 232441008 Congenital/genetic syndrome with poikiloderma 402769003 removed: 2020-01-31 Congenital/hereditary angiokeratoma 402838005 removed: 2014-07-31 Congenital/hereditary hypermelanotic disorder 402609009 removed: 2020-01-31 Congenital/hereditary lentiginosis 402806000 removed: 2018-07-31 Cutis tricolor 1293152007 Defect of purinergic receptor p2y G protein-coupled 12 725291001 Dental arch length loss secondary to congenitally missing teeth 109653001 removed: 2020-01-31 Developmental and/or congenital abnormality of nail 402625004 removed: 2021-07-31 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 783741006 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 783740007 Disorder of lysosomal enzyme 23585005 Double orifice of right atrioventricular valve in double inlet ventricle 449111002 Dysmorphological structure 277370002 removed: 2014-07-31 Dysraphism of cervical spine 200021000119109 Ectopic bone tissue, congenital 26155004 Encephalocraniocutaneous lipomatosis 238905009 Erythema palmare hereditarium 763767006 Extensive congenital erosions, vesicles and reticulate scarring 238851009 Familial congenital mirror movements 784348007 Familial focal epilepsy with variable foci 764522009 Familial nasal acilia 763532008 Fetal congenital tumor causing disproportion 23695007 removed: 2021-01-31 Fibrous dysplasia of bone 10623005 Fundus albipunctatus 764939004 Generalized congenital intestinal dysmotility 253785008 Generalized glucocorticoid resistance syndrome 819950002 Growth delay due to insulin-like growth factor type 1 deficiency 724385009 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 764962002 Hereditary adrenal unresponsiveness to corticotropin 71974009 Hereditary congenital prekallikrein deficiency 1162804003 Hereditary factor IX deficiency disease 41788008 Hereditary factor XI deficiency disease 49762007 Hereditary hemoglobinopathy 427306008 Hereditary nephrogenic diabetes insipidus 61165007 Hereditary systemic amyloidosis 107311000119104 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 783250007 Heterozygous methylenetetrahydrofolate reductase mutation 139821000119102 Homozygous methylenetetrahydrofolate reductase mutation 139811000119109 Hutch diverticulum 431771000124109 Hyperinsulinism due to deficiency of glucokinase 717182006 Hyperinsulinism due to HNF1A deficiency 721234004 Hyperinsulinism due to HNF4A deficiency 717048002 Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency 721236002 Hyperinsulinism due to uncoupling protein 2 deficiency 721834007 Hypermethioninemia due to deficiency of glycine N-methyltransferase 763720007 Hypermethioninemia encephalopathy due to deficiency of adenosine kinase 763721006 Hypomagnesemia with secondary hypocalcemia 711151004 Impacted teeth with abnormal position 9226004 removed: 2020-01-31 Inborn error of metabolism 86095007 Infantile myofibromatosis 254146000 Inherited congenital spastic tetraplegia 782887003 Integument anomalies NOS 268291009 removed: 2010-01-31 Isolated congenital horizontal gaze paresis 1217643005 Isolated follicle stimulating hormone deficiency 758664007 Isolated generalized anhidrosis with normal sweat glands 1187178004 Keratosis pilaris with ichthyosis and deafness 239061008 removed: 2020-07-31 Leber's amaurosis 193413001 Left congenital clinodactyly 15671841000119108 Legius syndrome 703541007 Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome 735421004 Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome 763366000 Lipoma due to neurospinal dysraphism 1003434002 Longitudinal deficiency of left femur 313261000119109 Median nodule of upper lip 722034006 Metabolic myopathy due to lactate transporter defect 766715000 Misplaced bilateral ears 15983311000119105 Mongolian spot 40467008 Monster NOS 205785001 removed: 2010-01-31 Mottled teeth, congenital 84752003 Muscle filaminopathy 764992006 Myopathy with hexagonally cross-linked tubular arrays 764994007 Myosclerosis 763895001 Myotonia congenita 726051002 Natal tooth 21995002 Nemaline myopathy, early onset type 129621001 Nephrogenic syndrome of inappropriate antidiuresis 723440000 Neurocutaneous syndrome 78572006 Non-syndromic mitochondrial sensorineural deafness 1187512003 Other and unspecified congenital anomalies 205730000 removed: 2010-01-31 Other congenital anomalies 268353007 removed: 2010-01-31 Other specified face and neck anomalies 204282008 removed: 2010-01-31 Other specified integument anomaly 205609000 removed: 2010-01-31 Other specified nonteratogenic anomalies 205100000 removed: 2010-01-31 Pacman dysplasia 722127006 Pigmented paravenous retinochoroidal atrophy 723450004 Platelet storage pool defect 128099001 Polydactyly of fingers of left hand 15666441000119105 Polydactyly of fingers of right hand 15666361000119104 Polydactyly of toes of left foot 15666161000119102 Polydactyly of toes of right foot 15666121000119107 Progressive external ophthalmoplegia, myopathy, emaciation syndrome 764733009 Pure mitochondrial myopathy 732245008 Pyridoxal 5-phosphate dependent epilepsy 724576005 Regional congenital anomaly 105994001 removed: 2022-06-30 Reticulate acropigmentation of Kitamura 239133004 Retinal hemangioblastomatosis 2167004 Right congenital clinodactyly 15671881000119103 Right ventricular myocardial sinusoids 448825008 removed: 2019-07-31 Rolandic epilepsy, speech dyspraxia syndrome 765093009 Segmental lymphangiomatosis 403547002 Short stature locking fingers syndrome 726734001 Skin damage resulting from congenital/hereditary neuropathy 402741006 removed: 2020-01-31 Spectrin-associated autosomal recessive cerebellar ataxia 763351003 Spheroid body myopathy 765092004 Spinal hydromeningocele 203967002 removed: 2021-07-31 Spinal meningocele 203978005 removed: 2015-01-31 Syndromic X-linked intellectual disability type 7 719160009 Systemic lymphangiomatosis 238804007 Systemic venovenous collateral vein 448872008 Tarsal coalition of left foot 15666001000119102 Tarsal coalition of right foot 15665961000119105 Tricuspid but functionally bicuspid aortic valve 449116007 Unspecified anomaly of connective tissue 205540004 removed: 2010-01-31 Vitamin D-dependent rickets, type 1 67049004 Vitamin D-dependent rickets, type 2 72831007 X-linked corneal dermoid 715426004 X-linked endothelial corneal dystrophy 718579008 X-linked hereditary motor and sensory neuropathy 230552007 X-linked intellectual disability Van Esch type 718914002 X-linked neurodegenerative syndrome Bertini type 718849008 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 66091009 ancestors sorted most to least specific
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