OMOP Concept 4079868

Carnitine palmitoyltransferase I deficiency

StandardConditionSNOMED238001003Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept

3 source codes normalize to Carnitine palmitoyltransferase I deficiency via the OMOP "Maps to" relationship.

VocabularyCodeNameType
CIEL146149Carnitine palmitoyltransferase I deficiencyNon-standard
MeSHC535588Carnitine palmitoyl transferase 1A deficiencyNon-standard
Nebraska Lexicon238001003Liver form of carnitine palmitoyltransferase deficiencyNon-standard

Synonyms

Alternative names recorded for Carnitine palmitoyltransferase I deficiency across source vocabularies.

  • Carnitine palmitoyltransferase deficiency type 1
  • Carnitine palmitoyltransferase I deficiency (disorder)
  • CPT1 - Carnitine palmitoyltransferase I deficiency
  • CPTI - Carnitine palmitoyltransferase deficiency type I
  • deficiencia de la carnitina palmitoiltransferasa I
  • deficiencia de la carnitina palmitoiltransferasa I (trastorno)
  • Liver form of carnitine palmitoyltransferase deficiency

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Broader concepts

(17)

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