SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Hereditary disease  32895009

Autosomal hereditary disorder  1899006

Autosomal recessive hereditary disorder  85995004

Biotin-(propionyl-CoA-carboxylase) ligase deficiency   15307001

SNOMED CT code


SNOMED code15307001
nameBiotin-(propionyl-CoA-carboxylase) ligase deficiency
statusremoved
date introduced2002-01-31
fully specified name(s)Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder)
synonyms
  • Multiple carboxylase deficiency, neonatal onset
  • Biotin-(propionyl-CoA-carboxylase) ligase deficiency
  • Neonatal multiple carboxylase deficiency
  • Neonatal biotin-responsive multiple carboxylase deficiency
  • Holocarboxylase synthetase deficiency
  • Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency
parentsAutosomal recessive hereditary disorder   85995004
childrenMultiple carboxylase deficiency - neonatal onset   360367001  removed: 2003-07-31
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Biotin-(propionyl-CoA-carboxylase) ligase deficiency   15307001  removed: 2020-07-31

ancestors
sorted most to least specific
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