65327002: Mucopolysaccharidosis type I-H (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
108537017	Mucopolysaccharidosis, MPS-I-H	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
108538010	L-iduronidase deficiency, Hurler type	en	Synonym	Active	Case sensitive	SNOMED CT core
108539019	Lipochondrodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
108540017	Gargoylism	en	Synonym	Active	Case insensitive	SNOMED CT core
108541018	Hurler's syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
108542013	Hurler-Pfaundler syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
108543015	Dysostosis multiplex syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2971529014	Mucopolysaccharidosis type I-H (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
500079013	MPS 1-H - Mucopolysaccharidosis type I-H	en	Synonym	Active	Case sensitive	SNOMED CT core
500080011	Mucopolysaccharidosis type I-H	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
500081010	Hurler disease MPS type 1H	en	Synonym	Active	Case sensitive	SNOMED CT core
500082015	Mucopolysaccharidosis type I severe form	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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