15892005: Mucopolysaccharidosis III-D (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\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-D

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
26923019	Mucopolysaccharidosis, MPS-III-D	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
26924013	Sanfilippo syndrome, type D	en	Synonym	Active	Case sensitive	SNOMED CT core
26925014	N-acetylglucosamine-6-sulfatase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2970859019	Mucopolysaccharidosis III-D (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
477561015	Deficiency of N-acetylglucosamine-6-sulphatase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
477562010	MPSIIID - Mucopolysaccharidosis type IIID	en	Synonym	Active	Case sensitive	SNOMED CT core
477563017	MPS III-D - Mucopolysaccharidosis III-D	en	Synonym	Active	Case sensitive	SNOMED CT core
477564011	Mucopolysaccharidosis type IIID	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
477565012	Sanfilippo syndrome D	en	Synonym	Active	Case sensitive	SNOMED CT core
477566013	Mucopolysaccharidosis III-D	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
477567016	Deficiency of N-acetylglucosamine-6-sulfatase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
477570017	N-acetylglucosamine-6-sulphatase deficiency	en	Synonym	Active	Case insensitive	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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