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-D   15892005

SNOMED CT code


SNOMED code15892005
nameMucopolysaccharidosis, MPS-III-D
statusactive
date introduced2002-01-31
fully specified name(s)Mucopolysaccharidosis III-D (disorder)
synonyms
  • Mucopolysaccharidosis, MPS-III-D
  • Sanfilippo syndrome, type D
  • N-acetylglucosamine-6-sulfatase deficiency
  • Deficiency of N-acetylglucosamine-6-sulphatase
  • MPSIIID - Mucopolysaccharidosis type IIID
  • MPS III-D - Mucopolysaccharidosis III-D
  • Mucopolysaccharidosis type IIID
  • Sanfilippo syndrome D
  • Mucopolysaccharidosis III-D
  • Deficiency of N-acetylglucosamine-6-sulfatase
  • N-acetylglucosamine-6-sulphatase 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-D   15892005

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