Propionic aciduria

Preferred Label : Propionic aciduria;

ICD-11 definition : Propionic acidemia is an organic aciduria due to propionyl-CoA carboxylase deficiency characterized by onset of manifestations soon after birth including ketoacidotic coma, hyperammonemia and convulsions. Apart from acute metabolic decompensation, the major complications are neurological disorders (central grey nuclei), cardiomyopathies, and acute pancreatitis.;

ICD-11 synonym : Propionyl-CoA carboxylase deficiency; Ketotic hypergklycinaemia; Propionic acidaemia; Hyperglycinaemia with ketosis and leucopenia; Ketotic glycinaemia;

Details

Origin ID

1618541953;

UMLS CUI

C0268579;

Automatic exact mappings (from CISMeF team)
- Ketotic glycinaemia [MedDRA LLT]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidemia [MedDRA LLT]
- Propionyl-CoA carboxylase deficiency [MedDRA LLT]
- propionic acidemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Propionic Acidemia [NCIt concept]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia [OMIM Phenotype]
- Propionic acidemia [HPO term]
- Propionic acidemia (disorder) [SNOMED CT concept]
- propionic acidemia [MeSH Descriptor]
- propionic acidemia [DO Concept]
- propionic acidemia [MeSH concept]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia, nos [SNOMED Notion]
- propionicaciduria [MeSH concept]
See also inter- (CISMeF)
- Deficiency of propionyl-coenzyme A carboxylase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ketotic glycinaemia [MedDRA LLT]
- Ketotic glycinemia [MedDRA LLT]
- Propionic Acidemia [NCIt concept]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidaemia [MedDRA Preferred Term]
- Propionic acidemia [HPO term]
- Propionic acidemia [OMIM Phenotype]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia [MedDRA LLT]
- Propionic acidemia (disorder) [SNOMED CT concept]
- Propionyl-CoA carboxylase deficiency [HPO term]
- propionic acidemia [DO Concept]
- propionic acidemia [MeSH Descriptor]
- propionic acidemia [MeSH concept]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia, nos [SNOMED Notion]
- propionyl-coa carboxylase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients