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54898003: Multiple sulfatase deficiency (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)\Sphingolipidosis\Multiple sulfatase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple sulfatase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Multiple sulfatase deficiency
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\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 (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Multiple sulfatase deficiency
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Multiple sulfatase deficiency

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
Multiple sulfatase deficiency	Is a	Sphingolipidosis	true	Inferred relationship	Some
Multiple sulfatase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Multiple sulfatase deficiency	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Multiple sulfatase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Multiple sulfatase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

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
91256019	Multiple sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
91258018	Juvenile sulfatidosis, Austin type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
91259014	Mucosulfatidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
497079016	Mucosulphatidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
497080018	Multiple sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
497081019	Juvenile sulphatidosis, Austin type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
793179010	Multiple sulfatase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216736016	Juvenile sulphatidosis Austin type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218226018	Juvenile sulfatidosis Austin type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
844491000052115	multipel sulfatasbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)