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| Descritor em português: | Transtornos Peroxissômicos | ||||||
| Descritor em inglês: | Peroxisomal Disorders | ||||||
| Descritor em espanhol: |
Trastorno Peroxisomal
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| Descritor em francês: | Maladies péroxysomiales | ||||||
| Termo(s) alternativo(s): |
Acidemia, Hyperpipecolic Acidemias, Hyperpipecolic Adrenoleukodystrophies, Neonatal Adrenoleukodystrophy, Autosomal Neonatal Form Adrenoleukodystrophy, Autosomal, Neonatal Form Adrenoleukodystrophy, Neonatal Dysfunction, General Peroxisomal Dysfunction, Multiple Peroxisomal Dysfunction, Single Peroxisomal Dysfunctions, General Peroxisomal Dysfunctions, Multiple Peroxisomal Dysfunctions, Single Peroxisomal General Peroxisomal Dysfunction General Peroxisomal Dysfunctions Hyperpipecolatemia Hyperpipecolic Acidemia Hyperpipecolic Acidemias Multiple Peroxisomal Dysfunction Multiple Peroxisomal Dysfunctions Neonatal Adrenoleukodystrophies Neonatal Adrenoleukodystrophy Peroxisomal Disorder Peroxisomal Dysfunction, General Peroxisomal Dysfunction, Multiple Peroxisomal Dysfunction, Single Peroxisomal Dysfunctions, General Peroxisomal Dysfunctions, Multiple Peroxisomal Dysfunctions, Single Single Peroxisomal Dysfunction Single Peroxisomal Dysfunctions |
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| Código(s) hierárquico(s): |
C16.320.565.663 C18.452.648.663 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D018901 | ||||||
| Nota de escopo: | A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. |
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| Nota de indexação: | general or unspecified; prefer specifics; do not confuse entry term ADRENOLEUKODYSTROPHY, NEONATAL with ADRENOLEUKODYSTROPHY |
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| Qualificadores 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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| Indexação Anterior: |
Lipid Metabolism, Inborn Errors (1988-1995) Metabolism, Inborn Errors (1988-1995) |
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| Nota MeSH pública: | 1996 |
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| Nota histórica: | 1996 |
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| Versão alternativa: | PEROXISOMAL DIS |
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| Identificador DeCS: | 32655 | ||||||
| ID do descritor: | D018901 | ||||||
| Classificação da NLM: | WD 205.5.L5 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/1996 | ||||||
| Data de entrada: | 27/12/1994 | ||||||
| Data de revisão: | 08/06/2015 |
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Peroxisomal Disorders
- Conceito preferido
Hyperpipecolic Acidemia
- Mais específico
Peroxisomal Dysfunction, Multiple
- Mais específico
Peroxisomal Dysfunction, Single
- Mais específico
Adrenoleukodystrophy, Neonatal
- Mais específico
Peroxisomal Dysfunction, General
- Mais específico
| Identificador do conceito |
M0028264 |
| Nota de escopo | A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders. |
| Termo preferido | Peroxisomal Disorders |
| Termo(s) alternativo(s) |
Peroxisomal Disorder |
| Identificador do conceito |
M0028262 |
| Termo preferido | Hyperpipecolic Acidemia |
| Termo(s) alternativo(s) |
Acidemia, Hyperpipecolic Acidemias, Hyperpipecolic Hyperpipecolatemia Hyperpipecolic Acidemias |
| Identificador do conceito |
M0335830 |
| Termo preferido | Peroxisomal Dysfunction, Multiple |
| Termo(s) alternativo(s) |
Dysfunction, Multiple Peroxisomal Dysfunctions, Multiple Peroxisomal Multiple Peroxisomal Dysfunction Multiple Peroxisomal Dysfunctions Peroxisomal Dysfunctions, Multiple |
| Identificador do conceito |
M0335831 |
| Termo preferido | Peroxisomal Dysfunction, Single |
| Termo(s) alternativo(s) |
Dysfunction, Single Peroxisomal Dysfunctions, Single Peroxisomal Peroxisomal Dysfunctions, Single Single Peroxisomal Dysfunction Single Peroxisomal Dysfunctions |
| Identificador do conceito |
M0028261 |
| Termo preferido | Adrenoleukodystrophy, Neonatal |
| Termo(s) alternativo(s) |
Adrenoleukodystrophies, Neonatal Adrenoleukodystrophy, Autosomal Neonatal Form Adrenoleukodystrophy, Autosomal, Neonatal Form Neonatal Adrenoleukodystrophies Neonatal Adrenoleukodystrophy |
| Identificador do conceito |
M0335829 |
| Termo preferido | Peroxisomal Dysfunction, General |
| Termo(s) alternativo(s) |
Dysfunction, General Peroxisomal Dysfunctions, General Peroxisomal General Peroxisomal Dysfunction General Peroxisomal Dysfunctions Peroxisomal Dysfunctions, General |
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