75238000: Mucopolysaccharidosis III-C (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\Mucopolysaccharidosis, MPS-III-C

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-C

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

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-C
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-C

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-C	Is a	Sanfilippo syndrome	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-C	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-III-C	Finding site	Body system structure	false	Inferred relationship	Some

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
124957011	Mucopolysaccharidosis, MPS-III-C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
124958018	Acetyl-CoA: heparan-alpha-D-glucosaminide N-acetyltransferase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
124959014	Sanfilippo syndrome, type C	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124960016	Heparan-alpha-glucosaminide acetyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233849019	Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233850019	Mucopolysaccharidosis III-C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233851015	MPS III-C - Mucopolysaccharidosis III-C	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233852010	N-Acetyl transferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233853017	Sanfilippo syndrome C	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233854011	MPSIIIC - Mucopolysaccharidosis type IIIC	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2970971012	Mucopolysaccharidosis III-C (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5794871000172115	mucopolysaccharidose, MPS-III-C	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4373391000172113	mucopolysacharidose type 3c	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)