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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 III-D

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis III-D

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-D
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-D

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis III-D

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

Descriptions:

Id Description Lang Type Status Case? Module

26923019 Mucopolysaccharidosis, MPS-III-D en Synonym Active Only initial character case insensitive SNOMED CT core module
26924013 Sanfilippo syndrome, type D en Synonym Active Entire term case sensitive SNOMED CT core module
26925014 N-acetylglucosamine-6-sulfatase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
477561015 Deficiency of N-acetylglucosamine-6-sulphatase en Synonym Active Only initial character case insensitive SNOMED CT core module
477562010 MPSIIID - Mucopolysaccharidosis type IIID en Synonym Active Entire term case sensitive SNOMED CT core module
477563017 MPS III-D - Mucopolysaccharidosis III-D en Synonym Active Entire term case sensitive SNOMED CT core module
477564011 Mucopolysaccharidosis type IIID en Synonym Active Only initial character case insensitive SNOMED CT core module
477565012 Sanfilippo syndrome D en Synonym Active Entire term case sensitive SNOMED CT core module
477566013 Mucopolysaccharidosis III-D en Synonym Active Only initial character case insensitive SNOMED CT core module
477567016 Deficiency of N-acetylglucosamine-6-sulfatase en Synonym Active Only initial character case insensitive SNOMED CT core module
477568014 N-Acetylglucosamine-6-sulphatase deficiency en Synonym Inactive Entire term case sensitive SNOMED CT core module
477569018 N-Acetylglucosamine-6-sulfatase deficiency en Synonym Inactive Entire term case sensitive SNOMED CT core module
477570017 N-acetylglucosamine-6-sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
742807018 Mucopolysaccharidosis, MPS-III-D (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2970859019 Mucopolysaccharidosis III-D (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis III-D	Is a	Sanfilippo syndrome	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis III-D	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mucopolysaccharidosis III-D	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

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
26923019	Mucopolysaccharidosis, MPS-III-D	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
26924013	Sanfilippo syndrome, type D	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
26925014	N-acetylglucosamine-6-sulfatase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
477561015	Deficiency of N-acetylglucosamine-6-sulphatase	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
477562010	MPSIIID - Mucopolysaccharidosis type IIID	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
477563017	MPS III-D - Mucopolysaccharidosis III-D	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
477564011	Mucopolysaccharidosis type IIID	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
477565012	Sanfilippo syndrome D	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
477566013	Mucopolysaccharidosis III-D	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
477567016	Deficiency of N-acetylglucosamine-6-sulfatase	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
477568014	N-Acetylglucosamine-6-sulphatase deficiency	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
477569018	N-Acetylglucosamine-6-sulfatase deficiency	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
477570017	N-acetylglucosamine-6-sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
742807018	Mucopolysaccharidosis, MPS-III-D (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive	SNOMED CT core module
2970859019	Mucopolysaccharidosis III-D (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module