Sialic storage disease   278991002

SNOMED CT code


SNOMED code278991002
nameSialic storage disease
statusactive
date introduced2002-01-31
fully specified name(s)Sialic storage disease (disorder)
synonymsSialic storage disease
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
parents
  • Disorder of sialic acid metabolism   238050009
  • Dysostosis multiplex group   279081001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
children
  • Salla disease   87074006
  • Sialic acid storage disease, severe infantile type   34566007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Lysosomal storage disease   28821000119102
            Disorder of sialic acid metabolism   238050009
              Sialic storage disease   278991002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Dysostosis multiplex group   279081001
            Sialic storage disease   278991002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Sialic storage disease   278991002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Sialic storage disease   278991002

ancestors
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