Carnitine palmitoyltransferase II deficiency   238002005

SNOMED CT code


SNOMED code238002005
nameCarnitine palmitoyltransferase II deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Carnitine palmitoyltransferase II deficiency (disorder)
synonyms
  • Carnitine palmitoyltransferase deficiency type 2
  • CPTII - Carnitine palmitoyltransferase deficiency type II
  • Muscle form of carnitine palmitoyltransferase deficiency
  • CPT2 - Carnitine palmitoyltransferase II deficiency
  • Carnitine palmitoyltransferase II deficiency
attributes - group1
OccurrenceCongenital   255399007
parents
  • Fatty acid oxidation defect   1156591005
  • Carnitine palmitoyltransferase deficiency   90500005
children
  • Myopathic form of carnitine palmitoyltransferase II deficiency   1187514002
  • Neonatal form of carnitine palmitoyltransferase II deficiency   1187511005
  • Severe infantile form of carnitine palmitoyltransferase II deficiency   1187536004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of fatty acid metabolism   39929009
            Fatty acid oxidation defect   1156591005
              Carnitine palmitoyltransferase II deficiency   238002005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Carnitine palmitoyltransferase deficiency   90500005
            Carnitine palmitoyltransferase II deficiency   238002005

ancestors
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