Multiple sulfatase deficiency   54898003

SNOMED CT code


SNOMED code54898003
nameMultiple sulfatase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Multiple sulfatase deficiency (disorder)
synonyms
  • Juvenile sulphatidosis Austin type
  • Juvenile sulfatidosis Austin type
  • Mucosulphatidosis
  • Multiple sulphatase deficiency
  • Juvenile sulphatidosis, Austin type
  • Multiple sulfatase deficiency
  • Juvenile sulfatidosis, Austin type
  • Mucosulfatidosis
attributes - group1
OccurrenceCongenital   255399007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Disorder of lysosomal enzyme   23585005
          Multiple sulfatase deficiency   54898003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            Sphingolipidosis   238028008
              Multiple sulfatase deficiency   54898003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Multiple sulfatase deficiency   54898003

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