15892005: Mucopolysaccharidosis III-D (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, MPS-III-D

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-D

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

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

\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome (disorder)\Mucopolysaccharidosis, MPS-III-D

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

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, MPS-III-D	Is a	Sanfilippo syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-III-D	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis, MPS-III-D	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

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Id	Description	Lang	Type	Status	Case?	Module
26923019	Mucopolysaccharidosis, MPS-III-D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
26924013	Sanfilippo syndrome, type D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
26925014	N-acetylglucosamine-6-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477561015	Deficiency of N-acetylglucosamine-6-sulphatase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477562010	MPSIIID - Mucopolysaccharidosis type IIID	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477563017	MPS III-D - Mucopolysaccharidosis III-D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477564011	Mucopolysaccharidosis type IIID	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477565012	Sanfilippo syndrome D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477566013	Mucopolysaccharidosis III-D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477567016	Deficiency of N-acetylglucosamine-6-sulfatase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477570017	N-acetylglucosamine-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2970859019	Mucopolysaccharidosis III-D (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
26923019	Mucopolysaccharidosis, MPS-III-D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
26924013	Sanfilippo syndrome, type D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
26925014	N-acetylglucosamine-6-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477561015	Deficiency of N-acetylglucosamine-6-sulphatase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477562010	MPSIIID - Mucopolysaccharidosis type IIID	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477563017	MPS III-D - Mucopolysaccharidosis III-D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477564011	Mucopolysaccharidosis type IIID	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477565012	Sanfilippo syndrome D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477566013	Mucopolysaccharidosis III-D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477567016	Deficiency of N-acetylglucosamine-6-sulfatase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477568014	N-Acetylglucosamine-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477569018	N-Acetylglucosamine-6-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477569018	N-Acetylglucosamine-6-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477570017	N-acetylglucosamine-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
477570017	N-acetylglucosamine-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
742807018	Mucopolysaccharidosis, MPS-III-D (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2970859019	Mucopolysaccharidosis III-D (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3414861001000114	Sanfilippo-Krankheit Typ D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3414861001000114	Sanfilippo-Krankheit Typ D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module