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-C   75238000

SNOMED CT code


SNOMED code75238000
nameMucopolysaccharidosis, MPS-III-C
statusactive
date introduced2002-01-31
fully specified name(s)Mucopolysaccharidosis III-C (disorder)
synonyms
  • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
  • Mucopolysaccharidosis III-C
  • MPS III-C - Mucopolysaccharidosis III-C
  • N-Acetyl transferase deficiency
  • Sanfilippo syndrome C
  • MPSIIIC - Mucopolysaccharidosis type IIIC
  • Mucopolysaccharidosis, MPS-III-C
  • Acetyl-CoA: heparan-alpha-D-glucosaminide N-acetyltransferase deficiency
  • Sanfilippo syndrome, type C
  • Heparan-alpha-glucosaminide acetyltransferase 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-C   75238000

ancestors
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