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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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (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

1135 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Roussy-Levy syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Schnyder crystalline cornea dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
White sponge nevus of mucosa (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, dominant form est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant autosomal hereditary disorder, complete penetrance est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant autosomal hereditary disorder, incomplete penetrance est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to alpha spectrin defect est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Andersen Tawil syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Episodic ataxia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Vitelliform dystrophy est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Neurofibromatosis type 1 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hemiplegic migraine est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant deficiency of plasminogen est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary angioedema with normal C1 esterase inhibitor activity est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
stéatocystomes multiples est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Li-Fraumeni syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hypodontia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dentin dysplasia, type II est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type I est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Glucose transporter protein type 1 deficiency syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de Loeys-Dietz est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
leucodystrophie autosomique dominante de l'adulte est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
SOX2 anophthalmia syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de douleur extrême paroxystique est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
22q11.2 duplication syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Zimmermann-Laband syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Oculodental syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Duane-radial ray syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Acute intermittent porphyria est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ulnar mammary syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Tarsal-carpal coalition syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Rapid onset dystonia parkinsonism est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloperipheral dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pitt-Hopkins syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Potocki-Shaffer syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Actin accumulation myopathy (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, Strudwick type est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Potassium aggravated myotonia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital stromal corneal dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Crouzon syndrome with acanthosis nigricans (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Craniofacial deafness hand syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Genitopatellar syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary myopathy with early respiratory failure est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated pituitary adenoma est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperparathyroidism-jaw tumor syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy 2 est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Frontotemporal dementia with gene located on 3p11 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperferritinemia cataract syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Baraitser-Winter syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
DICER1 syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial encephalopathy with neuroserpin inclusion bodies est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dentatorubral-pallidoluysian atrophy (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hand-foot-genital syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
GRN-related frontotemporal dementia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary diffuse leukoencephalopathy with spheroids (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome autosomique dominant d'hématurie, tortuosités rétiniennes, crampes musculaires est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Frontotemporal dementia with parkinsonism-17 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Feingold syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Auriculo-condylar syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
FOXG1 syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie acromicrique est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant familial woolly hair est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant ichthyosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Bannayan syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
anémie dysérythropoïétique congénitale type III (trouble) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Branchiooculofacial syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cystatin C amyloid angiopathy (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant progressive nephropathy with hypertension (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital reticular ichthyosiform erythroderma (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brooke-Spiegler syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cap myopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Char syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mowat-Wilson syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Legius syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cutis laxa, autosomal dominant est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant dyskeratosis congenita (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Atelosteogenesis est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Jackson-Weiss syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dentatorubropallidoluysian degeneration est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital blue dot cataract est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Arteriohepatic dysplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive myositis ossificans est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hypocalcemia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cole disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
ataxie spinocérébelleuse type 36 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
vitréo-rétino-choroïdopathie autosomique dominante est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
STING-associated vasculopathy with onset in infancy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Caveolin 3 related distal myopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pseudoprimary hyperaldosteronism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
MYH9 related disease est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some

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