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| Descritor em português: | Citrulinemia | ||||||
| Descritor em inglês: | Citrullinemia | ||||||
| Descritor em espanhol: |
Citrulinemia
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| Descritor em francês: | Citrullinémie | ||||||
| Termo(s) alternativo(s): |
ASS Deficiencies ASS Deficiency Argininosuccinate Synthase Deficiency Disease Argininosuccinate Synthetase Deficiencies Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthase Deficiency Disease Argininosuccinic Acid Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency Disease Argininosuccinic Acid Synthetase Deficiency Disease, Partial Argininosuccinic Acid Synthetase Deficiency, Complete Citrullinemia 1 Citrullinemia Type 1 Citrullinemia, Classic Citrullinemia, Classical Citrullinemia, Late Onset Citrullinemia, Late-Onset Citrullinemia, Neonatal Citrullinemia, Type I Citrullinemias Citrullinemias, Classic Citrullinemias, Classical Citrullinuria Citrullinurias Classic Citrullinemia Classic Citrullinemias Classical Citrullinemia Classical Citrullinemias Complete Argininosuccinic Acid Synthetase Deficiency Disease Deficiencies, Argininosuccinate Synthetase Deficiency Disease, Argininosuccinate Synthase Deficiency Disease, Argininosuccinic Acid Synthase Deficiency, ASS Deficiency, Argininosuccinate Synthetase Deficiency, Argininosuccinic Acid Synthetase, Complete Deficiency, Argininosuccinic Acid Synthetase, Partial Late-Onset Citrullinemia Late-Onset Citrullinemias Neonatal Citrullinemia Neonatal Citrullinemias Partial Argininosuccinic Acid Synthetase Deficiency Disease Type 1, Citrullinemia Type I Citrullinemia Type I Citrullinemias |
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| Código(s) hierárquico(s): |
C10.228.140.163.100.937.374 C16.320.565.100.940.374 C16.320.565.189.937.374 C18.452.132.100.937.374 C18.452.648.100.940.374 C18.452.648.189.937.374 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D020159 | ||||||
| Nota de escopo: | A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) |
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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: |
Amino Acid Metabolism, Inborn Errors (1965-1999) Argininosuccinate Synthase/deficiency (1975-1999) |
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| Nota MeSH pública: | 2000 |
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| Nota histórica: | 2000 |
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| Veja também os descritores: |
Argininosuccinate Synthase
MeSH | ||||||
| Identificador DeCS: | 34230 | ||||||
| ID do descritor: | D020159 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/2000 | ||||||
| Data de entrada: | 03/11/1999 | ||||||
| Data de revisão: | 27/05/2020 |
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Citrullinemia
- Conceito preferido
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
- Mais específico
Argininosuccinic Acid Synthetase Deficiency, Complete
- Mais específico
Citrullinemia 1
- Mais específico
| Identificador do conceito |
M0328360 |
| Nota de escopo | A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) |
| Termo preferido | Citrullinemia |
| Termo(s) alternativo(s) |
ASS Deficiencies ASS Deficiency Argininosuccinate Synthase Deficiency Disease Argininosuccinate Synthetase Deficiencies Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthase Deficiency Disease Argininosuccinic Acid Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency Disease Citrullinemias Citrullinuria Citrullinurias Deficiencies, Argininosuccinate Synthetase Deficiency Disease, Argininosuccinate Synthase Deficiency Disease, Argininosuccinic Acid Synthase Deficiency, ASS Deficiency, Argininosuccinate Synthetase |
| Identificador do conceito |
M0334694 |
| Termo preferido | Argininosuccinic Acid Synthetase Deficiency Disease, Partial |
| Termo(s) alternativo(s) |
Citrullinemia, Late Onset Citrullinemia, Late-Onset Deficiency, Argininosuccinic Acid Synthetase, Partial Late-Onset Citrullinemia Late-Onset Citrullinemias Partial Argininosuccinic Acid Synthetase Deficiency Disease |
| Identificador do conceito |
M0334695 |
| Termo preferido | Argininosuccinic Acid Synthetase Deficiency, Complete |
| Termo(s) alternativo(s) |
Citrullinemia, Neonatal Complete Argininosuccinic Acid Synthetase Deficiency Disease Deficiency, Argininosuccinic Acid Synthetase, Complete Neonatal Citrullinemia Neonatal Citrullinemias |
| Identificador do conceito |
M000649001 |
| Termo preferido | Citrullinemia 1 |
| Termo(s) alternativo(s) |
Citrullinemia Type 1 Citrullinemia, Classic Citrullinemia, Classical Citrullinemia, Type I Citrullinemias, Classic Citrullinemias, Classical Classic Citrullinemia Classic Citrullinemias Classical Citrullinemia Classical Citrullinemias Type 1, Citrullinemia Type I Citrullinemia Type I Citrullinemias |
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