Alpha-N-acetylgalactosaminidase deficiency   238048001

SNOMED CT code


SNOMED code238048001
nameAlpha-N-acetylgalactosaminidase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Alpha-N-acetylgalactosaminidase deficiency (disorder)
synonyms
  • Schindler disease
  • Alpha-N-acetylgalactosaminidase deficiency
  • NAGA (alpha-N-acetylgalactosaminidase) deficiency
attributes - group1
Finding siteNervous system structure   25087005
attributes - group2
OccurrenceCongenital   255399007
parents
  • Oligosaccharidosis   1155842003
  • Inherited metabolic disorder of nervous system   128190004
  • Autosomal recessive hereditary disorder   85995004
children
  • Alpha-N-acetylgalactosaminidase deficiency type 1   879937000
  • Alpha-N-acetylgalactosaminidase deficiency type 2   880065001
  • Alpha-N-acetylgalactosaminidase deficiency type 3   880066000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Oligosaccharidosis   1155842003
            Alpha-N-acetylgalactosaminidase deficiency   238048001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Alpha-N-acetylgalactosaminidase deficiency   238048001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Alpha-N-acetylgalactosaminidase deficiency   238048001

ancestors
sorted most to least specific
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