Hyperpipecolatemia

Preferred Label : Hyperpipecolatemia;

NCIt synonyms : Pipecolic Acidemia;

NCIt definition : A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and hepatomegaly.;

Details

Origin ID

C125593;

UMLS CUI

C0282526;

Currated CISMeF NLP mapping
- Pipecolic acidemia [ORDO Disease]
- Pipecolic acidemia (disorder) [SNOMED CT concept]
- hyperpipecolic acidemia [MeSH concept]
- pipecolic acidemia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperpipecolic acidaemia [MedDRA Preferred Term]
- Hyperpipecolic acidemia [MedDRA LLT]
- Pipecolic acidemia [ORDO Disease]
- Pipecolic acidemia (disorder) [SNOMED CT concept]
- hyperpipecolic acidemia [MeSH concept]
- pipecolic acidemia [SNOMED Notion]
Validated automatic mappings to NTBT
- peroxisomal disorders [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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