75238000: Mucopolysaccharidosis III-C (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\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

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

\Congenital disease\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

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

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

2970971012 Mucopolysaccharidosis III-C (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-III-C	est un(e) (attribut)	Sanfilippo syndrome	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-C	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-III-C	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets