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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
Pseudocholinesterase deficiency Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial hypodontia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dentin dysplasia, type II Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Acute intermittent porphyria Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Cutis laxa, autosomal dominant Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Pfeiffer's disease Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary stomatocytosis Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Marfan's syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dominant hereditary optic atrophy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant variant form of albumin Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
polykystose rénale autosomique dominante Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Melnick-Fraser syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Alpha-1-antitrypsin deficiency Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary hemochromatosis Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hyaline dystrophy of Bruch's membrane Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial amyloid polyneuropathy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
HNSHA due to triosephosphate isomerase deficiency Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Icelandic type Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Cherubism Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Peutz-Jeghers syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary cerebral amyloid angiopathy, Dutch type Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Congenital myotonia, autosomal dominant form Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary elliptocytosis due to deficiency of protein 4.1 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
diabète insipide néphrogénique héréditaire Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Franceschetti-Klein syndrome Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant analbuminemia Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant excess of transthyretin Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary pancreatitis Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Gorlin syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial multiple polyposis syndrome Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary elliptocytosis due to beta spectrin defect in self-association Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary elliptocytosis due to abnormal protein 4.1 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Benign autosomal dominant osteopetrosis Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant oculocutaneous albinism Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
White sponge nevus of mucosa Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Pseudohypoaldosteronism, type 1, dominant form Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dominant autosomal hereditary disorder, complete penetrance Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dominant autosomal hereditary disorder, incomplete penetrance Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary elliptocytosis due to alpha spectrin defect Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
dystrophie vitelliforme Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Neurofibromatosis type 1 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial hemiplegic migraine Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant deficiency of plasminogen Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant late onset basal ganglia degeneration Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant idiopathic familial dystonia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant sensory neuropathy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant retinitis pigmentosa Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - local Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant muscular dystrophy not predominantly limb girdle Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial chronic mucocutaneous candidiasis - dominant type Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant ichthyosis vulgaris Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant lamellar ichthyosis Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant cystoid macular edema Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Acrodysostosis Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant mutilating keratoderma Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Reis-Bucklers' corneal dystrophy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
White sponge nevus of mucosa (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Multiple endocrine neoplasia, type 2b Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Noonan's syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Multiple congenital exostosis Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hawkinsinuria (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Currarino triad (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A familial type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnea and cyanosis) can be seen. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures can occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Reticulate acropigmentation of Kitamura Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Multiple lentigines syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Cleidocranial dysostosis Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Neurofibromatosis type 2 Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Thiel-Behnke corneal dystrophy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
May Hegglin syndrome Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Roussy-Levy syndrome Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Schnyder crystalline cornea dystrophy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Andersen Tawil syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Episodic ataxia (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary angioedema without abnormal C1 inhibitor levels or function. One type has been found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. Mechanisms include mutations of the genes encoding coagulation factor XII, angiopoietin-1, plasminogen and as yet undefined factors. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Steatocystoma multiplex Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Li-Fraumeni syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Acrocephalosyndactyly type I Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Glucose transporter protein type 1 deficiency syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Loeys-Dietz syndrome (disorder) Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Adult onset autosomal dominant leukodystrophy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
SOX2 anophthalmia syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
An autosomal dominant disorder due to a sodium channelopathy and characterized by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some

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