Propionic Acidemia

Preferred Label : Propionic Acidemia;

NCIt definition : A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.;

Details

Origin ID

C85030;

UMLS CUI

C0268579;

Automatic exact mappings (from CISMeF team)
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidemia [MedDRA LLT]
- propionic acidemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Propionic acidemia [HPO term]
- Propionic acidemia [OMIM Phenotype]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia (disorder) [SNOMED CT concept]
- Propionic aciduria [ICD-11 More detail]
- Propionyl-CoA carboxylase deficiency [HPO term]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia [DO Concept]
- propionic acidemia [MeSH Descriptor]
- propionic acidemia [MeSH concept]
- propionic acidemia, nos [SNOMED Notion]
- propionicaciduria [MeSH concept]
DO Cross reference
- propionic acidemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ketotic glycinaemia [MedDRA LLT]
- Ketotic glycinemia [MedDRA LLT]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidaemia [MedDRA Preferred Term]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia [OMIM Phenotype]
- Propionic acidemia [HPO term]
- Propionic acidemia [MedDRA LLT]
- Propionic acidemia (disorder) [SNOMED CT concept]
- Propionic aciduria [ICD-11 More detail]
- Propionyl-CoA carboxylase deficiency [HPO term]
- propionic acidemia [DO Concept]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia [MeSH concept]
- propionic acidemia [MeSH Descriptor]
- propionic acidemia, nos [SNOMED Notion]
- propionyl-coa carboxylase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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