59990008: Mucopolysaccharidosis III-B (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis III-B (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis III-B (disorder)

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis III-B (disorder)

\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis III-B (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis III-B (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis III-B (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis III-B (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis III-B (disorder)	Is a	Sanfilippo syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis III-B (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis III-B (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
99654013	Mucopolysaccharidosis, MPS-III-B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
99655014	Sanfilippo syndrome, type B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
99656010	alpha-N-acetylglucosaminidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232023015	MPS III-B - Mucopolysaccharidosis III-B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232024014	Sanfilippo syndrome B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232025010	Alpha-N-acetylglucosaminidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232026011	MPSIIIB - Mucopolysaccharidosis type IIIB	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232027019	N-Acetyl-alpha-D-glucosaminidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232028012	Mucopolysaccharidosis III-B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2970944012	Mucopolysaccharidosis III-B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
99654013	Mucopolysaccharidosis, MPS-III-B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
99655014	Sanfilippo syndrome, type B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
99656010	alpha-N-acetylglucosaminidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
798893019	Mucopolysaccharidosis, MPS-III-B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232023015	MPS III-B - Mucopolysaccharidosis III-B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232023015	MPS III-B - Mucopolysaccharidosis III-B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232024014	Sanfilippo syndrome B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232024014	Sanfilippo syndrome B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232025010	Alpha-N-acetylglucosaminidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232026011	MPSIIIB - Mucopolysaccharidosis type IIIB	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232026011	MPSIIIB - Mucopolysaccharidosis type IIIB	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1232027019	N-Acetyl-alpha-D-glucosaminidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232028012	Mucopolysaccharidosis III-B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2970944012	Mucopolysaccharidosis III-B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3411561001000114	Sanfilippo-Krankheit Typ B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411561001000114	Sanfilippo-Krankheit Typ B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module