Congenital disease

Code	`66091009`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020731

6988700082-hydroxyglutaric aciduria disorder

764453009Action myoclonus renal failure syndrome disorder

63135006Amyotonia congenita disorder

7530009Asexual dwarfism disorder

763067000Autosomal dominant congenital benign spinal muscular atrophy disorder

717046003Autosomal dominant hyperinsulinism due to SUR1 deficiency disorder

715339004Autosomal dominant keratitis disorder

783202008Autosomal dominant secondary polycythaemia disorder

1148914007Autosomal dominant sideroblastic anaemia disorder

764854006Autosomal dominant slowed nerve conduction velocity disorder

763312008Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome disorder

783766005Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene disorder

717050005Autosomal recessive sideroblastic anaemia disorder

240080003Benign congenital hypotonia disorder

234362006Biermer's congenital pernicious anaemia disorder

703522009Biotin-thiamine-responsive basal ganglia disease disorder

703532002Cap myopathy disorder

722377004Carney Stratakis syndrome disorder

715795005Charcot-Marie-Tooth disease type 4 disorder

716277000Chronic diarrhoea due to glucoamylase deficiency disorder

770407006Chuvash erythrocytosis disorder

763212006Combined pancreatic lipase and colipase deficiency disorder

718182008Combined pituitary hormone deficiency genetic form disorder

770626007Congenital Horner syndrome disorder

84449007Congenital accessory skin tag disorder

700283004Congenital achalasia of oesophagus disorder

716746003Congenital alpha-2-antiplasmin deficiency disorder

63565007Congenital anaemia disorder

718721006Congenital analbuminaemia disorder

204788008Congenital atrophy of left lobe of liver disorder

722990003Congenital atrophy of optic nerve disorder

237517001Congenital atrophy of thyroid disorder

229748008Congenital auditory imperception disorder

232134006Congenital axial myopia disorder

1237626001Congenital axonal neuropathy with encephalopathy disorder

1187209002Congenital benign giant pigmented naevus of skin disorder

95610008Congenital brain damage disorder

713869000Congenital calcium pyrophosphate dihydrate crystal deposition disease disorder

762228008Congenital cardiovascular disorder disorder

267207004Congenital cardiovascular disorders during pregnancy, childbirth and the puerperium disorder

399040002Congenital central hypoventilation disorder

371313002Congenital cerebellar cortical atrophy disorder

721154006Congenital chalasia of oesophagus disorder

1153394005Congenital chondrolysis disorder

74345006Congenital chromosomal disease disorder

773579007Congenital chronic diarrhoea with protein-losing enteropathy disorder

232148006Congenital colour blindness disorder

363039000Congenital connective tissue disorder disorder

73716000Congenital cutaneous angiomatosis disorder

16833831000119106Congenital cutaneous mastocytosis disorder

31339007Congenital cyst of vulva disorder

726334003Congenital dacryocoele disorder

716698007Congenital deficiency of alpha-fetoprotein disorder

234361004Congenital deficiency of intrinsic factor disorder

40467008Congenital dermal melanocytosis disorder

238904008Congenital diffuse lipomatosis disorder

230541001Congenital disorder of facial nerve disorder

235913009Congenital disorder of gallbladder and biliary tract disorder

721646008Congenital diverticulitis of small intestine disorder

230786001Congenital dysphasia disorder

897277000Congenital epignathus disorder

13851000119109Congenital facial asymmetry disorder

230529008Congenital failure of eye elevation disorder

234456000Congenital fibrinogen abnormality disorder

191146005Congenital folate malabsorption anaemia disorder

253778009Congenital functional disorders of the colon disorder

253767001Congenital functional disorders of the small intestine disorder

204113001Congenital glaucoma disorder

399960008Congenital hamartoma disorder

95827002Congenital hearing disorder disorder

205022009Congenital hernia of urinary bladder disorder

1217622009Congenital horizontal gaze palsy disorder

206588008Congenital hypertonia disorder

722944006Congenital hypogonadotropic hypogonadism disorder

190268003Congenital hypothyroidism disorder

254156001Congenital ichthyosiform erythroderma disorder

36138009Congenital immunodeficiency disease disorder

1163118004Congenital infection caused by Lymphocytic choriomeningitis virus disorder

82353009Congenital infectious disease disorder

1237623009Congenital insensitivity to pain with severe intellectual disability disorder

271015004Congenital instability of hip joint disorder

31076000Congenital ischaemic atrophy of central nervous system structure disorder

1231283007Congenital isolated adrenocorticotropic hormone deficiency disorder

6874009Congenital keratoderma disorder

5388008Congenital lactase deficiency disorder

232442001Congenital laryngeal abductor palsy disorder

232443006Congenital laryngeal adductor palsy disorder

765763007Congenital laryngeal cyst disorder

79801002Congenital leptomeningeal angiomatosis disorder

722391005Congenital lethal erythroderma disorder

722392003Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells disorder

236790005Congenital male infertility disorder

276654001Congenital malformation disorder

402559007Congenital malignant melanoma disorder

86042009Congenital melanosis disorder

725592009Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation disorder

172069000Congenital meningocele disorder

267550008Congenital methaemoglobinaemia disorder

1217640008Congenital monocular elevator palsy disorder

450849003Congenital monosaccharide malabsorption disorder

230672006Congenital myasthenic syndrome disorder

1003468008Congenital nasopharyngeal teratoma disorder

276585000Congenital nephritis disorder

722118005Congenital nephrotic syndrome due to congenital infection disorder

722369003Congenital nephrotic syndrome due to diffuse mesangial sclerosis disorder

236384008Congenital nephrotic syndrome with focal glomerulosclerosis disorder

40145002Congenital neutrophil actin dysfunction disorder

278509004Congenital non-progressive ataxia disorder

64635004Congenital nystagmus disorder

1217207008Congenital oculomotor nerve palsy disorder

5731000119108Congenital osteodystrophy disorder

253758001Congenital palato-oesophageal incoordination disorder

54119007Congenital pancreatic trypsin deficiency disorder

192949002Congenital paraplegia disorder

717407006Congenital plasminogen activator inhibitor deficiency type 1 disorder

190913009Congenital porphyria disorder

12427005Congenital primary adrenocortical hypofunction disorder

230784003Congenital pseudobulbar palsy disorder

1231686007Congenital pseudopapilloedema disorder

48376004Congenital pseudoporencephaly disorder

348971000119105Congenital pseudostrabismus disorder

707442002Congenital pulmonary alveolar proteinosis disorder

204670005Congenital pyloric spasm disorder

275468009Congenital quadriplegia disorder

204941003Congenital renal atrophy disorder

369071000119105Congenital renal cyst disorder

205045003Congenital scoliosis due to bony malformation disorder

25898005Congenital secretory diarrhoea disorder

128206006Congenital sensory neuropathy with selective loss of small myelinated fibres disorder

363042006Congenital sequelae of disorders disorder

400945000Congenital sixth nerve palsy disorder

230779009Congenital spastic foot disorder

1156475005Congenital talipes equinovarus disorder

737221003Congenital thrombocytopaenia disorder

763218005Congenital trigeminal anaesthesia disorder

1204418008Congenital trochlear nerve palsy disorder

276627004Congenital uraemia disorder

700285006Congenital velopharyngeal dysfunction disorder

232441008Congenital vocal cord palsy disorder

1293152007Cutis tricolor disorder

725291001Defect of purinergic receptor p2y G protein-coupled 12 disorder

230785002Developmental dysarthria disorder

783741006Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency disorder

783740007Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency disorder

23585005Disorder of lysosomal enzyme disorder

449111002Double orifice of right atrioventricular valve in double inlet ventricle disorder

26155004Ectopic bone tissue, congenital disorder

238905009Encephalocraniocutaneous lipomatosis disorder

763767006Erythema palmare hereditarium disorder

238851009Extensive congenital erosions, vesicles and reticulate scarring disorder

784348007Familial congenital mirror movements disorder

763532008Familial nasal acilia disorder

10623005Fibrous dysplasia of bone disorder

764939004Fundus albipunctatus disorder

253785008Generalised congenital intestinal dysmotility disorder

819950002Generalised glucocorticoid resistance syndrome disorder

724385009Growth delay due to insulin-like growth factor type 1 deficiency None

764962002Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 disorder

71974009Hereditary adrenal unresponsiveness to corticotropin disorder

1162804003Hereditary congenital prekallikrein deficiency disorder

41788008Hereditary factor IX deficiency disease disorder

49762007Hereditary factor XI deficiency disease disorder

427306008Hereditary haemoglobinopathy disorder

783250007Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency disorder

139821000119102Heterozygous methylenetetrahydrofolate reductase mutation disorder

139811000119109Homozygous methylenetetrahydrofolate reductase mutation disorder

717182006Hyperinsulinism due to deficiency of glucokinase disorder

721236002Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency disorder

763720007Hypermethioninaemia due to deficiency of glycine N-methyltransferase disorder

763721006Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase disorder

711151004Hypomagnesaemia with secondary hypocalcaemia disorder

86095007Inborn error of metabolism disorder

254146000Infantile myofibromatosis disorder

782887003Inherited congenital spastic tetraplegia disorder

1217643005Isolated congenital horizontal gaze paresis disorder

758664007Isolated follicle stimulating hormone deficiency disorder

1187178004Isolated generalised anhidrosis with normal sweat glands disorder

193413001Leber's amaurosis disorder

703541007Legius syndrome disorder

735421004Leucoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome disorder

763366000Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome disorder

1003434002Lipoma due to neurospinal dysraphism disorder

722034006Median nodule of upper lip disorder

766715000Metabolic myopathy due to lactate transporter defect disorder

84752003Mottled teeth, congenital disorder

764992006Muscle filaminopathy disorder

764994007Myopathy with hexagonally cross-linked tubular arrays disorder

763895001Myosclerosis disorder

726051002Myotonia congenita disorder

21995002Natal tooth disorder

129621001Nemaline myopathy, early onset type disorder

723440000Nephrogenic syndrome of inappropriate antidiuresis disorder

78572006Neurocutaneous syndrome disorder

1187512003Non-syndromic mitochondrial sensorineural deafness disorder

724576005P5PD developmental and epileptic encephalopathy disorder

722127006Pacman dysplasia disorder

723450004Pigmented paravenous retinochoroidal atrophy disorder

128099001Platelet storage pool defect disorder

764733009Progressive external ophthalmoplegia, myopathy, emaciation syndrome disorder

732245008Pure mitochondrial myopathy disorder

21764004Renal carnitine transport defect disorder

239133004Reticulate acropigmentation of Kitamura disorder

2167004Retinal haemangioblastomatosis disorder

765093009Rolandic epilepsy, speech dyspraxia syndrome disorder

403547002Segmental lymphangiomatosis disorder

726734001Short stature locking fingers syndrome disorder

763351003Spectrin-associated autosomal recessive cerebellar ataxia disorder

765092004Spheroid body myopathy disorder

719160009Syndromic X-linked intellectual disability type 7 disorder

238804007Systemic lymphangiomatosis disorder

448872008Systemic venovenous collateral vein disorder

50375007Thyroid hormone responsiveness defect disorder

449116007Tricuspid but functionally bicuspid aortic valve disorder

67049004Vitamin D-dependent rickets, type 1 disorder

72831007Vitamin D-dependent rickets, type 2 disorder

715426004X-linked corneal dermoid disorder

718579008X-linked endothelial corneal dystrophy disorder

230552007X-linked hereditary motor and sensory neuropathy disorder

718914002X-linked intellectual disability Van Esch type disorder

718849008X-linked neurodegenerative syndrome Bertini type disorder

Synonyms

Parents (1)

Children (220)