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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
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

1208 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
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
Severe achondrolasia with developmental delay and 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 False 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
Iris coloboma with ptosis, hypertelorism, and mental retardation Is a False 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
Dentatorubral-pallidoluysian atrophy 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
Hereditary cystatin C amyloid angiopathy 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
KBG syndrome 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 False 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 False Autosomal dominant hereditary disorder Inferred relationship Some

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