59990008: Mucopolysaccharidosis III-B (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-B
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-B
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-B
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-B
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-B

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1232023015	MPS III-B - Mucopolysaccharidosis III-B	en	Synonym	Active	Case sensitive	SNOMED CT core
1232024014	Sanfilippo syndrome B	en	Synonym	Active	Case sensitive	SNOMED CT core
1232025010	Alpha-N-acetylglucosaminidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1232026011	MPSIIIB - Mucopolysaccharidosis type IIIB	en	Synonym	Active	Case sensitive	SNOMED CT core
1232027019	N-Acetyl-alpha-D-glucosaminidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1232028012	Mucopolysaccharidosis III-B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2970944012	Mucopolysaccharidosis III-B (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
99654013	Mucopolysaccharidosis, MPS-III-B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
99655014	Sanfilippo syndrome, type B	en	Synonym	Active	Case sensitive	SNOMED CT core
99656010	alpha-N-acetylglucosaminidase 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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