Pyruvate dehydrogenase complex deficiency

ICD-11 code : 5C53.02;

Preferred Label : Pyruvate dehydrogenase complex deficiency;

ICD-11 definition : Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized 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.;

ICD-11 synonym : PDC deficiency; Ataxia with lactic acidosis; PDC - [Pyruvate dehydrogenase complex] deficiency;

Details

Origin ID

1124597954;

Currated CISMeF NLP mapping
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Pyruvate dehydrogenase complex deficiency [MedDRA Preferred Term]
- Pyruvate dehydrogenase complex deficiency [OMIM phenotypic series]
- Pyruvate dehydrogenase complex deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase deficiency [ORDO Disease]
- Pyruvate dehydrogenase e1-alpha deficiency [OMIM Phenotype]
- pyruvate dehydrogenase complex deficiency [SNOMED Notion]
- pyruvate dehydrogenase complex deficiency disease [MeSH Descriptor]
ICD-10 Mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
Validated automatic mappings to BTNT
- Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]

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