The way property values are displayed:
The way concept relations are shown:
The way concept relations are shown:
Homocystinuria
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Homocystinuria 48 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Homocystinuria 48 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Homocystinuria 48 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Homocystinuria 48 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Homocystinuria 48 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Homocystinuria 48 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ Homocystinuria 48 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Albinism | ∟ ∟ ∟ |
Broader terms: | ∟ ∟ ∟ ∟ ∟ Homocystinuria ∟ ∟ ∟ ∟ ∟ Homocystinuria ∟ ∟ ∟ ∟ ∟ ∟ Homocystinuria ∟ ∟ ∟ ∟ ∟ Homocystinuria ∟ ∟ ∟ ∟ ∟ Homocystinuria ∟ ∟ ∟ ∟ ∟ Homocystinuria ∟ ∟ ∟ Homocystinuria |
History note: | |
historyNote*: | 1969(1967)
X |
publicMeSHNote*: | 1969
X |
Scope note: | An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1969-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Related term: | |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Homokystinuria (fi) XDeficiency Disease, Cystathionine beta-Synthase (en, replaced) Homocistinuria (es) ομοκυστινουρία (el) Homozystinurie (de) homocystinurie (cs) Enfermedad por Deficiencia de Cistationina betasintasa (es, replaced) Cystathionin-beta-Synthase-Mangelkrankheit (de, replaced) |
Share: |
Loading results...