11164009: Autosomal dominant hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder

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

Descriptions:

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 vaskulopati	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cerebrooculonasal syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ehlers-Danlos syndrom, vaskulärliknande typ	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
ärftlig vaskulär retinopati	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
ärftligt syndrom med endoteliopati, retinopati, nefropati och stroke	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
familjära multipla fibrofollikulom	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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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
2598921000052112	autosomalt dominant ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)