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| Descriptor en español: |
Síndrome de Sjögren-Larsson
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| Descriptor en inglés: | Sjogren-Larsson Syndrome | ||||
| Descriptor en portugués: | Síndrome de Sjogren-Larsson | ||||
| Descriptor en francés: | Syndrome de Sjögren-Larsson | ||||
| Término(s) alternativo(s): |
Congenital Icthyosis Mental Retardation Spasticity Syndrome FALDH Deficiency Fatty Alcohol:NAD+ Oxidoreductase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Disease Ichthyosis Oligophrenia Syndrome Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia Sjogren Larsson Syndrome Sjögren-Larsson Syndrome |
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| Código(s) jeráquico(s): |
C16.131.831.512.723 C16.320.565.398.641.723 C16.320.850.820 C16.614.492.723 C17.800.428.333.723 C17.800.804.512.723 C17.800.827.820 C18.452.584.563.641.723 C18.452.648.398.641.723 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D016111 | ||||
| Nota de alcance: | An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. |
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| Nota de indización: | do not confuse with SJOGREN'S SYNDROME; in titles & translations use diacritic: Sjögren-Larsson |
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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: |
Ichthyosis (1966-1990) |
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| Nota Pública de MeSH: | 1991; see ICHTHYOSIS 1984-1990 |
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| Nota de historia: | 1991; use ICHTHYOSIS 1984-1990 |
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| Identificador de DeCS: | 29121 | ||||
| ID del Descriptor: | D016111 | ||||
| Documentos indizados en la Biblioteca Virtual de Salud (BVS): | Haga clic aquí para acceder a los documentos de la BVS | ||||
| Fecha de establecimiento: | 01/01/1991 | ||||
| Fecha de entrada: | 06/06/1990 | ||||
| Fecha de revisión: | 22/06/2015 |
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Sjogren-Larsson Syndrome
- Concepto preferido
| UI del concepto |
M0024610 |
| Nota de alcance | An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. |
| Término preferido | Sjogren-Larsson Syndrome |
| Término(s) alternativo(s) |
Congenital Icthyosis Mental Retardation Spasticity Syndrome FALDH Deficiency Fatty Alcohol:NAD+ Oxidoreductase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Disease Ichthyosis Oligophrenia Syndrome Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia Sjogren Larsson Syndrome Sjögren-Larsson Syndrome |
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