Visão selecionada em Inglês
Descritor em português: | Síndrome dos Cabelos Torcidos | ||||||
Descritor em inglês: | Menkes Kinky Hair Syndrome | ||||||
Descritor em espanhol: |
Síndrome del Pelo Ensortijado
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Descritor em francês: | Maladie de Menkès | ||||||
Termo(s) alternativo(s): |
Congenital Hypocupremia Congenital Hypocupremias Copper Deficiencies, X-Linked Copper Deficiency, X-Linked Copper Transport Disease Copper Transport Diseases Deficiencies, X-Linked Copper Deficiency, X-Linked Copper Disease, Copper Transport Disease, Steely Hair Diseases, Copper Transport Diseases, Kinky Hair Diseases, Menkes' Diseases, Steely Hair Hair Diseases, Kinky Hair Diseases, Steely Hypocupremia, Congenital Hypocupremias, Congenital Kinky Hair Disease Kinky Hair Diseases Kinky Hair Syndrome Menkea Syndrome Menkea Syndromes Menkes Disease Menkes Syndrome Menkes' Disease Menkes' Diseases Steely Hair Disease Steely Hair Diseases Steely Hair Syndrome Steely Hair Syndromes Syndrome, Menkea Syndrome, Steely Hair Syndromes, Menkea Syndromes, Steely Hair Transport Disease, Copper Transport Diseases, Copper X Linked Copper Deficiency X-Linked Copper Deficiencies X-Linked Copper Deficiency |
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Código(s) hierárquico(s): |
C10.228.140.163.100.540 C10.597.606.360.455.687 C16.320.322.500.687 C16.320.400.525.687 C16.320.565.189.540 C16.320.565.618.590 C17.800.329.968 C18.452.132.100.540 C18.452.648.189.540 C18.452.648.618.590 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D007706 | ||||||
Nota de escopo: | An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) |
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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: |
Brain Diseases (1966-1976) |
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Nota MeSH pública: | 2000; see KINKY HAIR SYNDROME 1991-1999; see BRAIN DISEASES, METABOLIC 1977-1990 |
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Nota histórica: | 2000(1977) |
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Veja também os descritores: |
Ceruloplasmin
MeSH Copper-Transporting ATPases MeSH Protein-Lysine 6-Oxidase MeSH Superoxide Dismutase MeSH | ||||||
Identificador DeCS: | 7882 | ||||||
ID do descritor: | D007706 | ||||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
Data de estabelecimento: | 01/01/1991 | ||||||
Data de entrada: | 05/05/1976 | ||||||
Data de revisão: | 30/06/2018 |
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Menkes Kinky Hair Syndrome
- Conceito preferido
Identificador do conceito |
M0012055 |
Nota de escopo | An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) |
Termo preferido | Menkes Kinky Hair Syndrome |
Termo(s) alternativo(s) |
Congenital Hypocupremia Congenital Hypocupremias Copper Deficiencies, X-Linked Copper Deficiency, X-Linked Copper Transport Disease Copper Transport Diseases Deficiencies, X-Linked Copper Deficiency, X-Linked Copper Disease, Copper Transport Disease, Steely Hair Diseases, Copper Transport Diseases, Kinky Hair Diseases, Menkes' Diseases, Steely Hair Hair Diseases, Kinky Hair Diseases, Steely Hypocupremia, Congenital Hypocupremias, Congenital Kinky Hair Disease Kinky Hair Diseases Kinky Hair Syndrome Menkea Syndrome Menkea Syndromes Menkes Disease Menkes Syndrome Menkes' Disease Menkes' Diseases Steely Hair Disease Steely Hair Diseases Steely Hair Syndrome Steely Hair Syndromes Syndrome, Menkea Syndrome, Steely Hair Syndromes, Menkea Syndromes, Steely Hair Transport Disease, Copper Transport Diseases, Copper X Linked Copper Deficiency X-Linked Copper Deficiencies X-Linked Copper Deficiency |
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