Zellweger syndrome   88469006

SNOMED CT code


SNOMED code88469006
nameZellweger syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Zellweger syndrome (disorder)
synonyms
  • Hyperpipecolic acidaemia
  • Hyperpipecolic acidemia
  • Zellweger's syndrome
  • Zellweger syndrome
  • Cerebrohepatorenal syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
  • Peroxisome biogenesis disorder   742876007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Zellweger syndrome   88469006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
                Zellweger syndrome   88469006

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
              Zellweger syndrome   88469006

ancestors
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