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-B   59990008

SNOMED CT code


SNOMED code59990008
nameMucopolysaccharidosis, MPS-III-B
statusactive
date introduced2002-01-31
fully specified name(s)Mucopolysaccharidosis III-B (disorder)
synonyms
  • MPS III-B - Mucopolysaccharidosis III-B
  • Sanfilippo syndrome B
  • Alpha-N-acetylglucosaminidase deficiency
  • MPSIIIB - Mucopolysaccharidosis type IIIB
  • N-Acetyl-alpha-D-glucosaminidase deficiency
  • Mucopolysaccharidosis III-B
  • Mucopolysaccharidosis, MPS-III-B
  • Sanfilippo syndrome, type B
  • alpha-N-acetylglucosaminidase 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-B   59990008

ancestors
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