54898003: Multiple sulfatase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Multiple sulfatase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple sulfatase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Multiple sulfatase deficiency
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Multiple sulfatase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Multiple sulfatase deficiency
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Multiple sulfatase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1216736016	Juvenile sulphatidosis Austin type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1218226018	Juvenile sulfatidosis Austin type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
497079016	Mucosulphatidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
497080018	Multiple sulphatase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
497081019	Juvenile sulphatidosis, Austin type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
793179010	Multiple sulfatase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
91256019	Multiple sulfatase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
91258018	Juvenile sulfatidosis, Austin type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
91259014	Mucosulfatidosis	en	Synonym	Active	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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