SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Disorder of lysosomal enzyme  23585005

Mucopolysaccharidosis  11380006

Sanfilippo syndrome   88393000

SNOMED CT code


SNOMED code88393000
nameSanfilippo syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Sanfilippo syndrome (disorder)
synonyms
  • Sanfilippo disease
  • Mucopolysaccharidosis type III
  • Sanfilippo syndrome
  • Mucopolysaccharidosis, MPS-III
attributes - group1
OccurrenceCongenital   255399007
parents
  • Mucopolysaccharidosis   11380006
  • Autosomal recessive hereditary disorder   85995004
children
  • Mucopolysaccharidosis, MPS-III-A   41572006
  • Mucopolysaccharidosis, MPS-III-B   59990008
  • Mucopolysaccharidosis, MPS-III-C   75238000
  • Mucopolysaccharidosis, MPS-III-D   15892005
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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Sanfilippo syndrome   88393000

ancestors
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