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
WNT4 Mullerian aplasia and ovarian dysfunction	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
22q11.2 duplication syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Zimmermann-Laband syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Oculodental syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Duane-radial ray syndrome (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
svår akondroplasi med försenad utveckling och acanthosis nigricans	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ulnar mammary syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tarsal-carpal coalition syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Rapid onset dystonia parkinsonism	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pitt-Hopkins syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Potocki-Shaffer syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Actin accumulation myopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, Strudwick type	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Potassium aggravated myotonia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital stromal corneal dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Crouzon syndrome with acanthosis nigricans (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Genitopatellar syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary myopathy with early respiratory failure	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial isolated pituitary adenoma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperparathyroidism-jaw tumor syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal myopathy 2	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Frontotemporal dementia with gene located on 3p11 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperferritinemia cataract syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Baraitser-Winter syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
DICER1 syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial encephalopathy with neuroserpin inclusion bodies	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
degeneration av nucleus dentatus, nucleus ruber, nucleus pallidus och corpus luysi	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hand-foot-genital syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
GRN-related frontotemporal dementia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary diffuse leukoencephalopathy with spheroids (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Frontotemporal dementia with parkinsonism-17	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Feingold syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Auriculo-condylar syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
FOXG1 syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acromicric dysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant familial woolly hair	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Bannayan syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital dyserythropoietic anemia, type III	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Branchiooculofacial syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
ärftlig cystatin C-amyloid angiopati	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant progressive nephropathy with hypertension (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital reticular ichthyosiform erythroderma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brooke-Spiegler syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cap myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Capillary malformation-arteriovenous malformation syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Char syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Legius syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal myopathy 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant dyskeratosis congenita (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Atelosteogenesis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Jackson-Weiss syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentatorubropallidoluysian degeneration	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital blue dot cataract	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Arteriohepatic dysplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Progressive myositis ossificans	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hypocalcemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cole disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 36 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant vitreoretinochoroidopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
STING-associated vasculopathy with onset in infancy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Caveolin 3 related distal myopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pseudoprimary hyperaldosteronism (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
MYH9 related disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant keratitis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Nicolaides-Baraitser syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ehlers-Danlos syndrome classic type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial partial lipodystrophy type 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mirror hands and feet co-occurrent with nasal defect (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tibial aplasia and ectrodactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial avascular necrosis of head of femur (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Exercise-induced hyperinsulinism (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary papillary renal cell carcinoma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Syndactyly type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Syndactyly type 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Syndactyly type 3 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 7 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 6 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 8 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 10 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 4 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant dopa responsive dystonia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Glomuvenous malformation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary thermosensitive neuropathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Gnathodiaphyseal dysplasia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

Start Page 2 of 10 Next End

This concept is not in any reference sets

Back to Start

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)