SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Disorder of lysosomal enzyme  23585005

Mucopolysaccharidosis  11380006

Sanfilippo syndrome  88393000

Mucopolysaccharidosis, MPS-III-A   41572006

SNOMED CT code


SNOMED code41572006
nameMucopolysaccharidosis, MPS-III-A
statusactive
date introduced2002-01-31
fully specified name(s)Mucopolysaccharidosis III-A (disorder)
synonyms
  • N-sulphoglucosamine sulphohydrolase deficiency
  • Heparan-N-sulphatase deficiency
  • Heparan sulphamidase deficiency
  • Heparan sulphate sulphatase deficiency
  • Heparan sulfamidase deficiency
  • Heparan-N-sulfatase deficiency
  • MPSIIIA - Mucopolysaccharidosis type IIIA
  • MPS III-A - Mucopolysaccharidosis III-A
  • Mucopolysaccharidosis type IIIA
  • Sanfilippo syndrome A
  • Mucopolysaccharidosis III-A
  • Mucopolysaccharidosis, MPS-III-A
  • Sanfilippo syndrome, type A
  • Heparan sulfate sulfatase deficiency
  • N-sulfoglucosamine sulfohydrolase deficiency
attributes - group1
OccurrenceCongenital   255399007
parentsSanfilippo syndrome   88393000
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
            Sanfilippo syndrome   88393000
              Mucopolysaccharidosis, MPS-III-A   41572006

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