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
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Helicoid peripapillary chorioretinal degeneration (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary cerebral hemorrhage with amyloidosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial partial lipodystrophy Kobberling type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
8q13 microdeletion syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
laminopati, Decaudain Vigouroux-typ	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Kleefstra syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypertelorism Teebi type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cryptomicrotia brachydactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital short costocoracoid ligament (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant omodysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial male-limited precocious puberty (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant striatal neurodegeneration (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Polydactyly of biphalangeal thumb (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial Scheuermann disease (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Butterfly-shaped pigmentary macular dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Genochondromatosis type 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary hypercarotenemia and vitamin A deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Isolated optic nerve hypoplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant tubulointerstitial kidney disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ptosis, strabismus, ectopic pupil syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Scalp defect postaxial polydactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial isolated congenital asplenia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cyprus facial neuromusculoskeletal syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 10 (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 6 (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly and distal symphalangism syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spastic paraplegia with precocious puberty syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 29 (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Camptobrachydactyly (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Banki syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Triphalangeal thumb and dislocation of patella syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Camptodactyly taurinuria syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal myopathy with posterior leg and anterior hand involvement (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
distal myopati med tidigt engagemang av andningsmuskler	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Carney complex (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Prion protein systemic amyloidosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Long thumb brachydactyly syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia trichoodontoonychial type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 40 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 38 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hereditary spastic paraplegia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Floating-Harbour syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Renal coloboma syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
autosomalt dominant tubulointerstitiell sjukdom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Darier disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial dyskeratotic comedones	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant congenital benign spinal muscular atrophy	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 37 (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hot water reflex epilepsy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Velofacioskeletal syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spastic ataxia with congenital miosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hyperprolactinemia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial vesicoureteral reflux (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Finnish upper limb onset distal myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Isolated congenital adermatoglyphia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dislocation of hip and facial dysmorphism syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Erythema palmare hereditarium	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial cortical myoclonus	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
KLHL9-related early-onset distal myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

Start Previous Page 6 of 10 Next End

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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)