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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
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1220 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder (disorder) Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
WNT4 Mullerian aplasia and ovarian dysfunction Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Zimmermann-Laband syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Oculodental syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Duane-radial ray syndrome (disorder) Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Tarsal-carpal coalition syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Abrupt onset of dystonia with parkinsonism over a period of hours to days. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Spondyloperipheral dysplasia (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Pitt-Hopkins syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Actin accumulation myopathy (disorder) Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia, Strudwick type Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Potassium aggravated myotonia (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Congenital stromal corneal dystrophy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Craniofacial deafness hand syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Genitopatellar syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary myopathy with early respiratory failure Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial isolated pituitary adenoma Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hyperparathyroidism-jaw tumor syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Distal myopathy 2 Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Frontotemporal dementia with gene located on 3p11 (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hyperferritinemia cataract syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Baraitser-Winter zerebro-fronto-faziales Syndrom Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
DICER1 syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial encephalopathy with neuroserpin inclusion bodies Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dentatorubral-pallidoluysian atrophy Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hand-foot-genital syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
GRN-related frontotemporal dementia Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary diffuse leukoencephalopathy with spheroids (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Frontotemporal dementia with parkinsonism-17 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Feingold syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Auriculo-condylar syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
FOXG1 syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Acromicric dysplasia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant familial woolly hair Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant ichthyosis (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Bannayan syndrome Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Congenital dyserythropoietic anemia, type III Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Branchiooculofacial syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary cystatin C amyloid angiopathy Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant progressive nephropathy with hypertension (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Congenital reticular ichthyosiform erythroderma (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Brooke-Spiegler syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Cap myopathy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Char syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Mowat-Wilson syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Legius syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Distal myopathy 2 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant dyskeratosis congenita (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Atelosteogenesis (disorder) Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Jackson-Weiss syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dentatorubropallidoluysian degeneration Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Congenital blue dot cataract Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Arteriohepatic dysplasia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Progressive myositis ossificans Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant hypocalcemia (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Cole disease Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
KBG syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Spinocerebellar ataxia type 36 (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant vitreoretinochoroidopathy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
STING-associated vasculopathy with onset in infancy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Caveolin 3 related distal myopathy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Pseudoprimary hyperaldosteronism (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
Nicolaides-Baraitser syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary thermosensitive neuropathy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some

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