Citrullinemia type I   1149103000

SNOMED CT code


SNOMED code1149103000
nameCitrullinemia type I
statusactive
date introduced2021-07-31
fully specified name(s)Citrullinemia type I (disorder)
synonyms
  • Citrullinaemia type 1
  • Citrullinemia type I
  • Citrullinemia type 1
  • Citrullinaemia type I
  • Classic citrullinemia
  • Classic citrullinaemia
  • ASS1-gene related citrullinemia type I
  • Argininosuccinate synthase 1-gene related citrullinemia type I
  • ASS1-gene related citrullinaemia type I
  • Argininosuccinate synthase 1-gene related citrullinaemia type I
attributes - group1
Due toDeficiency of argininosuccinate synthase   124711003
parents
childrenLate-onset citrullinemia type I   1264112006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Citrullinemia   398680004
            Citrullinemia type I   1149103000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Citrullinemia type I   1149103000

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