Lipoic acid synthetase deficiency   782744007

SNOMED CT code


SNOMED code782744007
nameLipoic acid synthetase deficiency
statusactive
date introduced2019-07-31
fully specified name(s)Lipoic acid synthetase deficiency (disorder)
synonymsLipoic acid synthetase deficiency
attributes - group1
OccurrenceCongenital   255399007
Finding siteCentral nervous system structure   21483005
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Disorder of the central nervous system   23853001
  • Mitochondrial cytopathy   240096000
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Lipoic acid synthetase deficiency   782744007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Lipoic acid synthetase deficiency   782744007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Lipoic acid synthetase deficiency   782744007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Lipoic acid synthetase deficiency   782744007

ancestors
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cpt crosswalks

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