Aspartylglucosaminuria   54954004

SNOMED CT code


SNOMED code54954004
nameAspartylglucosaminuria
statusactive
date introduced2002-01-31
fully specified name(s)Aspartylglucosaminuria (disorder)
synonyms
  • Aspartylglycosylaminase deficiency
  • Aspartylglucosaminuria
  • Aspartylglycosaminuria
  • Aspartylglucosaminidase deficiency
attributes - group1
OccurrenceCongenital   255399007
attributes - group3
Finding siteNervous system structure   25087005
attributes - group2
Finding siteSkeletal system structure   113192009
parents
  • Oligosaccharidosis   1155842003
  • Inherited metabolic disorder of nervous system   128190004
  • Hereditary disorder of musculoskeletal system   363212003
  • Autosomal recessive hereditary disorder   85995004
  • Disorder of skeletal system   88230002
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
            Aspartylglucosaminuria   54954004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Aspartylglucosaminuria   54954004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Aspartylglucosaminuria   54954004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Aspartylglucosaminuria   54954004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Aspartylglucosaminuria   54954004

ancestors
sorted most to least specific
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