SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Disorder of lysosomal enzyme  23585005

Mucopolysaccharidosis  11380006

Mucopolysaccharidosis, MPS-I  75610003

Mucopolysaccharidosis, MPS-I-H   65327002

SNOMED CT code


SNOMED code65327002
nameMucopolysaccharidosis, MPS-I-H
statusactive
date introduced2002-01-31
fully specified name(s)Mucopolysaccharidosis type I-H (disorder)
synonyms
  • Mucopolysaccharidosis, MPS-I-H
  • L-iduronidase deficiency, Hurler type
  • Lipochondrodystrophy
  • Gargoylism
  • Hurler's syndrome
  • Hurler-Pfaundler syndrome
  • Dysostosis multiplex syndrome
  • MPS 1-H - Mucopolysaccharidosis type I-H
  • Mucopolysaccharidosis type I-H
  • Hurler disease MPS type 1H
  • Mucopolysaccharidosis type I severe form
attributes - group1
OccurrenceCongenital   255399007
parentsMucopolysaccharidosis, MPS-I   75610003
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
            Mucopolysaccharidosis, MPS-I   75610003
              Mucopolysaccharidosis, MPS-I-H   65327002

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