SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Enzymopathy  78548001

Phenylketonuria  190687004

Classical phenylketonuria   7573000

SNOMED CT code


SNOMED code7573000
nameClassical phenylketonuria
statusactive
date introduced2002-01-31
fully specified name(s)Classical phenylketonuria (disorder)
synonyms
  • Classical phenylketonuria
  • Imbecilitus phenylpyruvica
  • Hyperphenylalaninemia, type I
  • Severe phenylalanine hydroxylase deficiency
  • Hyperphenylalaninaemia, type I
attributes - group1
OccurrenceCongenital   255399007
parentsPhenylketonuria   190687004
children
  • Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase   890435004
  • Classical phenylketonuria with total deficiency of phenylalanine hydroxylase   890436003
  • Persistent hyperphenylalaninemia   440009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Phenylketonuria   190687004
            Classical phenylketonuria   7573000

ancestors
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