75238000: Mucopolysaccharidosis III-C (disorder)

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

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-C

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

\Metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\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\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:

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

844471000052119 mukopolysackaridos typ III-C, MPS3C sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

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This concept is not in any reference sets