SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Mitochondrial cytopathy  240096000

Congenital hyperammonemia, type I   62522004

SNOMED CT code


SNOMED code62522004
nameCongenital hyperammonemia, type I
statusremoved
date introduced2002-01-31
date removed2018-07-31
fully specified name(s)Congenital hyperammonemia, type I (disorder)
synonyms
  • Congenital hyperammonemia, type I
  • CPS deficiency
  • CPS I deficiency
  • Carbamoyl-phosphate synthase deficiency
  • CPS - Carbamoyl-phosphate synthase deficiency
  • Carbamoylphosphate synthetase I deficiency
  • Carbamoyl-phosphate synthethase deficiency
  • Congenital hyperammonaemia, type I
parentsMitochondrial cytopathy   240096000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Congenital hyperammonemia, type I   62522004  removed: 2018-07-31

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