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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
19337016 Dominant hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1169 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cerebroretinal vasculopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Cerebrooculonasal syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Holt-Oram syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dermo-odonto dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 1B (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Blepharocheilodontic syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
rétinopathie vasculaire héréditaire Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hip dysplasia Beukes type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial developmental dysphasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Huntington disease-like 2 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Schilbach Rott syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Rombo syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Blindness, scoliosis, arachnodactyly syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperuricemia, anemia, renal failure syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Limb mammary syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Karsch Neugebauer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Median nodule of upper lip (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Oculootoradial syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Book syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ballard syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osteocraniostenosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant beta2-microglobulinic amyloidosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dyschondrosteosis and nephritis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial caudal dysgenesis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Parastremmatic dwarfism (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
PTEN hamartoma tumor syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Glomerulopathy with fibronectin deposits 2 (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Familial acute necrotizing encephalopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
fibrofolliculomes multiples familiaux Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Muscular dystrophy Selcen type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of index finger (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polyvalvular heart disease syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ring dermoid of cornea (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Reticular dystrophy of retinal pigment epithelium (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thoracolaryngopelvic dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Subepithelial mucinous corneal dystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 4 (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Grant syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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