Deficiency of leukotriene C4 synthase   717185008

SNOMED CT code


SNOMED code717185008
nameDeficiency of leukotriene C4 synthase
statusactive
date introduced2016-07-31
fully specified name(s)Deficiency of leukotriene C4 synthase (disorder)
synonyms
  • Deficiency of leukotriene C4 synthase
  • Leukotriene C4 synthase deficiency
  • Hypotonia with failure to thrive and microcephaly syndrome
attributes - group3
Finding siteHead structure   69536005
attributes - group4
Finding siteCentral nervous system structure   21483005
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsHead circumference   363812007
attributes - group2
Finding siteEndocrine structure   113331007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Deficiency of leukotriene C4 synthase   717185008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Deficiency of leukotriene C4 synthase   717185008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of leukotriene C4 synthase   717185008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of neurometabolic regulation   16279005
          Deficiency of leukotriene C4 synthase   717185008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Deficiency of leukotriene C4 synthase   717185008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Deficiency of leukotriene C4 synthase   717185008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Deficiency of leukotriene C4 synthase   717185008

ancestors
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