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| Descriptor en español: |
Homocistinuria
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| Descriptor en inglés: | Homocystinuria | ||||||
| Descriptor en portugués: | Homocistinúria | ||||||
| Descriptor en francés: | Homocystinurie | ||||||
| Término(s) alternativo(s): |
CBS Deficiencies CBS Deficiency Cystathionine Beta Synthase Deficiency Cystathionine beta Synthase Deficiency Disease Cystathionine beta-Synthase Deficiency Disease Deficiencies, CBS Deficiency Disease, Cystathionine beta Synthase Deficiency Disease, Cystathionine beta-Synthase Deficiency, CBS |
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| Código(s) jeráquico(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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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D006712 | ||||||
| Nota de alcance: | 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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| Calificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Indexación anterior: |
Amino Acid Metabolism, Inborn Errors (1966) Mental Retardation (1966) |
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| Nota Pública de MeSH: | 1969 |
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| Nota de historia: | 1969(1967) |
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| Vea también los descriptores: |
Cystathionine beta-Synthase
MeSH | ||||||
| Identificador de DeCS: | 6868 | ||||||
| ID del Descriptor: | D006712 | ||||||
| Clasificación de la NLM: | WD 205.5.A5 | ||||||
| Documentos indizados en la Biblioteca Virtual de Salud (BVS): | Haga clic aquí para acceder a los documentos de la BVS | ||||||
| Fecha de establecimiento: | 01/01/1969 | ||||||
| Fecha de entrada: | 01/01/1999 | ||||||
| Fecha de revisión: | 13/06/2014 |
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Homocystinuria
- Concepto preferido
Cystathionine beta-Synthase Deficiency Disease
- Más estrecho
| UI del concepto |
M0010516 |
| Nota de alcance | 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) |
| Término preferido | Homocystinuria |
| UI del concepto |
M0335279 |
| Término preferido | Cystathionine beta-Synthase Deficiency Disease |
| Término(s) alternativo(s) |
CBS Deficiencies CBS Deficiency Cystathionine Beta Synthase Deficiency Cystathionine beta Synthase Deficiency Disease Deficiencies, CBS Deficiency Disease, Cystathionine beta Synthase Deficiency Disease, Cystathionine beta-Synthase Deficiency, CBS |
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