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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

91256019 Multiple sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

91258018 Juvenile sulfatidosis, Austin type en Synonym Active Only initial character case insensitive SNOMED CT core module

91259014 Mucosulfatidosis en Synonym Active Entire term case insensitive SNOMED CT core module

497079016 Mucosulphatidosis en Synonym Active Entire term case insensitive SNOMED CT core module

497080018 Multiple sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

497081019 Juvenile sulphatidosis, Austin type en Synonym Active Only initial character case insensitive SNOMED CT core module

793179010 Multiple sulfatase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1216736016 Juvenile sulphatidosis Austin type en Synonym Active Only initial character case insensitive SNOMED CT core module

1218226018 Juvenile sulfatidosis Austin type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple sulfatase deficiency	Is a	Sphingolipidosis	true	Inferred relationship	Existential restriction modifier
Multiple sulfatase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Multiple sulfatase deficiency	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Existential restriction modifier
Multiple sulfatase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Multiple sulfatase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets