SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Inborn error of metabolism  86095007

Disorder of peroxisomal function  238059005

Peroxisome biogenesis disorder  742876007

PEX5 deficiency   1187548001

SNOMED CT code


SNOMED code1187548001
namePEX5 deficiency
statusactive
date introduced2022-01-31
fully specified name(s)Peroxisome biogenesis disorder due to PEX5 mutation (disorder)
synonyms
  • PEX5 deficiency
  • Peroxisome biogenesis disorder due to PEX5 mutation
attributes - group1
OccurrenceCongenital   255399007
parentsPeroxisome biogenesis disorder   742876007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of peroxisomal function   238059005
            Peroxisome biogenesis disorder   742876007
              PEX5 deficiency   1187548001

ancestors
sorted most to least specific
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