Maroteaux-Lamy syndrome   69463008

SNOMED CT code


SNOMED code69463008
nameMaroteaux-Lamy syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Maroteaux-Lamy syndrome (disorder)
synonyms
  • Maroteaux-Lamy syndrome
  • N-acetylgalactosamine-4-sulfatase deficiency
  • Polydystrophic dwarfism
  • Mucopolysaccharidosis, MPS-VI
  • Mucopolysaccharidosis chondroitin sulfate B
  • ARSB deficiency
  • Arylsulfatase B deficiency
  • Maroteaux-Lamy disease
  • Mucopolysaccharidosis type VI
  • MPS VI - Mucopolysaccharidosis VI
  • Mucopolysaccharidosis chondroitin sulphate B
  • N-acetylgalactosamine-4-sulphatase deficiency
  • Arylsulphatase B deficiency
  • ARSB - Arylsulphatase B deficiency
  • ARSB - Arylsulfatase B deficiency
attributes - group1
Finding siteNervous system structure   25087005
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group2
InterpretsHeight / growth measure   271603002
parents
  • Mucopolysaccharidosis   11380006
  • Short stature disorder   237836003
  • Developmental hereditary disorder   363070008
  • Deficiency of N-acetylgalactosamine-4-sulfatase   52677002
  • Autosomal recessive hereditary disorder   85995004
children
  • Maroteaux-Lamy syndrome, intermediate form   26015003
  • Maroteaux-Lamy syndrome, mild form   67854007
  • Maroteaux-Lamy syndrome, severe form   58263000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Mucopolysaccharidosis   11380006
            Maroteaux-Lamy syndrome   69463008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Maroteaux-Lamy syndrome   69463008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Maroteaux-Lamy syndrome   69463008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Deficiency of cerebroside-sulfatase   66521008
            Deficiency of N-acetylgalactosamine-4-sulfatase   52677002
              Maroteaux-Lamy syndrome   69463008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Maroteaux-Lamy syndrome   69463008

ancestors
sorted most to least specific
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