75610003: Mucopolysaccharidosis type I (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
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis, MPS-I
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
125578012	Mucopolysaccharidosis, MPS-I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
125580018	MPS I	en	Synonym	Active	Case sensitive	SNOMED CT core
125581019	L-iduronidase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2971922013	Mucopolysaccharidosis type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
503066015	MPSI - Mucopolysaccharidosis type I	en	Synonym	Active	Case sensitive	SNOMED CT core
503067012	Mucopolysaccharidosis type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
503068019	Alpha-L-iduronidase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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