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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym Active Case insensitive SNOMED CT core
2618831016 AD - Autosomal dominant en Synonym Active Case sensitive SNOMED CT core
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1150 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
Familial multiple polyposis syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to beta spectrin defect in self-association Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hawkinsinuria Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Currarino triad Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign neonatal familial convulsions Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to abnormal protein 4.1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign autosomal dominant osteopetrosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Reticulate acropigmentation of Kitamura Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple lentigines syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant oculocutaneous albinism Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Cleidocranial dysostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neurofibromatosis type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thiel-Behnke corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary angioedema Is a False Autosomal dominant hereditary disorder Inferred relationship Some
May Hegglin syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Roussy-Levy syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Schnyder crystalline cornea dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
White sponge naevus Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, dominant form Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant autosomal hereditary disorder, complete penetrance Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant autosomal hereditary disorder, incomplete penetrance Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary elliptocytosis due to alpha spectrin defect Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Andersen Tawil syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Episodic ataxia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Vitelliform dystrophy Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Neurofibromatosis type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hemiplegic migraine Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant deficiency of plasminogen Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary angioedema with normal C1 esterase inhibitor activity Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Steatocystoma multiplex Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Li-Fraumeni syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hypodontia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dentin dysplasia, type II Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type I Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Glucose transporter protein type 1 deficiency syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Loeys-Dietz syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Adult onset autosomal dominant leucodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
SOX2 anophthalmia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Paroxysmal extreme pain disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction Is a False Autosomal dominant hereditary disorder Inferred relationship Some
22q11.2 duplication syndrome 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Duane-radial ray syndrome 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
Acute intermittent porphyria Is a True 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 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital stromal corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Crouzon syndrome with acanthosis nigricans Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Craniofacial deafness hand syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Genitopatellar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary proximal 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 tumour syndrome 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 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 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 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Bannayan syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anaemia, 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital reticular ichthyosiform erythroderma 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cutis laxa, autosomal dominant Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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