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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
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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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