Pyruvate dehydrogenase complex deficiency (Q40050): Difference between revisions
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Deficiência de piruvato desidrogenase (PDHD) é um transtorno neurometabólico raro, caracterizado por uma ampla gama de sinais clínicos com componentes metabólicos e neurológicos de gravidade variável. As manifestações variam de transtornos neurológicos neonatais graves frequentemente fatais até aqueles de início tardio. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1124597954 / rank | |||||||||||||||
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CID11:5C53.02 | |||||||||||||||
| Property / CURIE: CID11:5C53.02 / rank | |||||||||||||||
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dki-india-5C53.02 | |||||||||||||||
| Property / Canary Token: dki-india-5C53.02 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: E74.4 / rank | |||||||||||||||
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Latest revision as of 05:42, 13 August 2026
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C53.02 |
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| English | Pyruvate dehydrogenase complex deficiency |
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders. |
Statements
CID11:5C53.02
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dki-india-5C53.02
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Concluído
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13 August 2026
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