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1899006: Autosomal 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
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
66691000077115 affection héréditaire autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
66691000077115 affection héréditaire autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3429 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal hereditary disorder Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary gingival fibromatosis Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial visceral neuropathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Adult hypophosphatasia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Crigler-Najjar syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Childhood hypophosphatasia Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to hexokinase deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Erythropoietic protoporphyria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypophosphatasia (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary spherocytosis (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hollow viscus myopathy Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hereditary disorder Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dystrophia brevicollis Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dystrophia brevicollis (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Non dystrophic myotonia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
2-hydroxyglutaric aciduria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary glucocorticoid resistance Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with normocalciuria (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia Azouz type Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypomagnesemia co-occurrent with normocalciuria (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cataract and microcornea syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dystrophic epidermolysis bullosa nails only (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypotrichosis simplex Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Transient bullous dermolysis of newborn (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial anetoderma is an extremely rare genetic skin disease characterised by loss of elastin tissue leading to localised areas of flaccid skin and a family history of the disorder. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia characterised by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Insulin resistance - type A Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fundus albipunctatus Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies syndrome characterised by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Genetic hyperferritinemia without iron overload Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Female infertility due to zona pellucida defect (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperbiliverdinaemia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal systemic lupus erythematosus (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Rare isolated myopia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Corticosteroid-binding globulin deficiency (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal spastic paraplegia type 72 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2P (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bleeding diathesis due to collagen receptor defect (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary isolated aplastic anemia Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperandrogenism due to cortisone reductase deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Malignant migrating partial seizures of infancy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital mirror movements (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megacystis, microcolon, hypoperistalsis syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachyolmia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary clubbing Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary von Willebrand disease type 2 Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autoimmune lymphoproliferative syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial long QT syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arrhythmogenic right ventricular dysplasia (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Adams-Oliver syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blount disease Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta type 5 (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia variabilis (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypodysfibrinogenemia Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Combined malonic and methylmalonic aciduria Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cone-rod dystrophy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Female infertility due to oocyte meiotic arrest Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Trehalase deficiency Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 1 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Typical nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Actin accumulation myopathy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate nemaline myopathy Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Central core disease Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 1 Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial cerebral saccular aneurysm (disorder) Is a True Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 11 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 10 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 3 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 12 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 13 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 4 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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