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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
WNT4 Müllerian aplasia and ovarian dysfunction Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Zimmermann-Laband syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Oculodental syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Duane-radial ray syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ulnar mammary syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Tarsal-carpal coalition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Rapid onset dystonia parkinsonism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloperipheral dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pitt-Hopkins syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Chromosome 11p11.2 deletion syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Actin accumulation myopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, Strudwick type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Potassium aggravated myotonia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital stromal corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Crouzon syndrome with acanthosis nigricans Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial deafness hand syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Genitopatellar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary myopathy with early respiratory failure Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial isolated pituitary adenoma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hyperparathyroidism-jaw tumor syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Distal myopathy 2 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Frontotemporal dementia with gene located on 3p11 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hyperferritinemia cataract syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Iris coloboma with ptosis, hypertelorism, and mental retardation Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pleuropulmonary blastoma family tumor susceptibility syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial encephalopathy with neuroserpin inclusion bodies Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Dentatorubral-pallidoluysian atrophy Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hand-foot-genital syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
GRN-related frontotemporal dementia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary diffuse leukoencephalopathy with spheroids Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Frontotemporal dementia with parkinsonism-17 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly-oculo-digito-esophageal-duodenal syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Auriculo-condylar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autoimmune lymphoproliferative syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
FOXG1 syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Acromicric dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant familial wooly hair Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant ichthyosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Bannayan syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital dyserythropoietic anemia, type III Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Branchiooculofacial syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary cystatin C amyloid angiopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant progressive nephropathy with hypertension Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital reticular ichthyosiform erythroderma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cutis gyrata syndrome of Beare and Stevenson Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brooke-Spiegler syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cap myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Capillary malformation-arteriovenous malformation syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mowat-Wilson syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Neurofibromatosis type 1-like syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Distal myopathy 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant dyskeratosis congenita Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Atelosteogenesis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Jackson-Weiss syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Dentatorubropallidoluysian degeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital blue dot cataract Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Arteriohepatic dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Progressive myositis ossificans Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hypocalcemia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 36 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant vitreoretinochoroidopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
STING-associated vasculopathy with onset in infancy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Caveolin 3 related distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pseudoprimary hyperaldosteronism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Myosin heavy chain 9 non muscle related disease Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant keratitis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Nicolaides-Baraitser syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome classic type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial partial lipodystrophy type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mirror hands and feet co-occurrent with nasal defect Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cochleosaccular degeneration and cataract syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Tibial aplasia and ectrodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial avascular necrosis of head of femur Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Exercise-induced hyperinsulinism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary papillary renal cell carcinoma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 7 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 6 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 8 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant dopa responsive dystonia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Glomuvenous malformation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary thermosensitive neuropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Goniodysgenesis with intellectual disability and short stature syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Gnathodiaphyseal dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Transthyretin related familial amyloid cardiomyopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier

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This concept is not in any reference sets

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