I-cell disease   70199000

SNOMED CT code


SNOMED code70199000
nameI-cell disease
statusactive
date introduced2002-01-31
fully specified name(s)I-cell disease (disorder)
synonyms
  • I-cell disease
  • Mucolipidosis II
  • N-acetylglucosamine-1-phosphotransferase deficiency
  • I-cell - Inclusion cell disease
  • Mucolipidosis type II
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
parents
  • Lipid storage disease   10741005
  • Disorder of glycoprotein metabolism   238045003
  • Dysostosis multiplex group   279081001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Mucolipidosis   70528007
  • Autosomal recessive hereditary disorder   85995004
childrenPseudo-Hurler polydystrophy   65764006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Lipid storage disease   10741005
            I-cell disease   70199000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            I-cell disease   70199000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Dysostosis multiplex group   279081001
            I-cell disease   70199000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          I-cell disease   70199000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          I-cell disease   70199000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Mucolipidosis   70528007
            I-cell disease   70199000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              I-cell disease   70199000

ancestors
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