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Descriptor English: | Homocystinuria | ||||||
Descriptor Spanish: |
Homocistinuria
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Descriptor Portuguese: | Homocistinúria | ||||||
Descriptor French: | Homocystinurie | ||||||
Entry term(s): |
Déficit en CBS Déficit en cystathionine bêta-synthase Homocystinurie par déficit en CBS |
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Tree number(s): |
C10.228.140.163.100.365 C16.320.565.100.480.500 C16.320.565.189.365 C17.300.428 C18.452.132.100.365 C18.452.648.100.480.500 C18.452.648.189.365 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D006712 | ||||||
Scope note: | 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 varus, 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) |
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Allowable Qualifiers: |
BL sang CF liquide cérébrospinal CI induit chimiquement CL classification CO complications DG imagerie diagnostique DH diétothérapie DI diagnostic DT traitement médicamenteux EC économie EH ethnologie EM embryologie EN enzymologie EP épidémiologie ET étiologie GE génétique HI histoire IM immunologie ME métabolisme MI microbiologie MO mortalité NU soins infirmiers PA anatomopathologie PC prévention et contrôle PP physiopathologie PS parasitologie PX psychologie RH rééducation et réadaptation RT radiothérapie SU chirurgie TH thérapie UR urine VE médecine vétérinaire VI virologie |
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Related: |
Cystathionine beta-synthase
MeSH | ||||||
DeCS ID: | 6868 | ||||||
Unique ID: | D006712 | ||||||
NLM Classification: | WD 205.5.A5 | ||||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
Date Established: | 1969/01/01 | ||||||
Date of Entry: | 1999/01/01 | ||||||
Revision Date: | 2014/06/13 |
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Homocystinurie
- Preferred
Déficit en cystathionine bêta-synthase
- Narrower
Concept UI |
M0010516 |
Preferred term | Homocystinurie |
Concept UI |
M0335279 |
Preferred term | Déficit en cystathionine bêta-synthase |
Entry term(s) |
Déficit en CBS Homocystinurie par déficit en CBS |
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