75238000: Mucopolysaccharidosis III-C (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, 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\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\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Sanfilippo syndrome\Mucopolysaccharidosis, MPS-III-C

Status: current, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
1233850019	Mucopolysaccharidosis III-C	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1233851015	MPS III-C - Mucopolysaccharidosis III-C	en	Synonym	Active	Case sensitive	SNOMED CT core
1233852010	N-Acetyl transferase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
1233853017	Sanfilippo syndrome C	en	Synonym	Active	Case sensitive	SNOMED CT core
1233854011	MPSIIIC - Mucopolysaccharidosis type IIIC	en	Synonym	Active	Case sensitive	SNOMED CT core
124957011	Mucopolysaccharidosis, MPS-III-C	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
124958018	Acetyl-CoA: heparan-alpha-D-glucosaminide N-acetyltransferase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
124959014	Sanfilippo syndrome, type C	en	Synonym	Active	Case sensitive	SNOMED CT core
124960016	Heparan-alpha-glucosaminide acetyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
2970971012	Mucopolysaccharidosis III-C (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
815825014	Mucopolysaccharidosis, MPS-III-C (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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