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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
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
WNT4 Mullerian aplasia and ovarian dysfunction Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Zimmermann-Laband syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculodental syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Duane-radial ray syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ulnar mammary syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tarsal-carpal coalition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Rapid onset dystonia parkinsonism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloperipheral dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Potocki-Shaffer syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Actin accumulation myopathy (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, Strudwick type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Potassium aggravated myotonia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stromal corneal dystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome with acanthosis nigricans (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial deafness hand syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Genitopatellar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary myopathy with early respiratory failure Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated pituitary adenoma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperparathyroidism-jaw tumor syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy 2 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
CHMP2B-related frontotemporal dementia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperferritinemia cataract syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Baraitser-Winter zerebro-fronto-faziales Syndrom Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
DICER1 syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial encephalopathy with neuroserpin inclusion bodies Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentatorubral-pallidoluysian atrophy Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hand-foot-genital syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
GRN-related frontotemporal dementia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary diffuse leucoencephalopathy with spheroids Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontotemporal dementia with parkinsonism-17 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Feingold syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Auriculo-condylar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune lymphoproliferative syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
FOXG1 syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acromicric dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant familial wooly hair Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant ichthyosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bannayan syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Branchiooculofacial syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cystatin C amyloid angiopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive nephropathy with hypertension (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital reticular ichthyosiform erythroderma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brooke-Spiegler syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cap myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Capillary malformation-arteriovenous malformation syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Char syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 1-like syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant dyskeratosis congenita (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Jackson-Weiss syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentatorubropallidoluysian degeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital blue dot cataract (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arteriohepatic dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myositis ossificans Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypocalcemia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cole disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 36 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant vitreoretinochoroidopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
STING-associated vasculopathy with onset in infancy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Caveolin 3 related distal myopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprimary hyperaldosteronism (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nicolaides-Baraitser syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial partial lipodystrophy type 2 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mirror hands and feet co-occurrent with nasal defect Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cochleosaccular degeneration and cataract syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial avascular necrosis of head of femur (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Exercise-induced hyperinsulinism (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly type 1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly type 2 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly type 3 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 7 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterised by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterised by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 6 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 8 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 10 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterized by ataxia with sensory neuropathy. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare vascular anomaly or angioma characterised by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thermosensitive neuropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
GMS syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gnathodiaphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Transthyretin related familial amyloid cardiomyopathy (disorder) Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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