54898003: Multiple sulfatase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\déficit multiple en sulfatases (trouble)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\déficit multiple en sulfatases (trouble)

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\déficit multiple en sulfatases (trouble)
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\déficit multiple en sulfatases (trouble)
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Sphingolipidosis\déficit multiple en sulfatases (trouble)

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\déficit multiple en sulfatases (trouble)

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

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

441691000241113 déficit multiple en sulfatases (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

897391000172118 DMS - déficit multiple en sulfatases fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

939161000172117 déficit multiple en sulfatases fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
déficit multiple en sulfatases (trouble)	est un(e) (attribut)	Sphingolipidosis	true	Inferred relationship	Some
déficit multiple en sulfatases (trouble)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
déficit multiple en sulfatases (trouble)	est un(e) (attribut)	Disorder of lysosomal enzyme	true	Inferred relationship	Some
déficit multiple en sulfatases (trouble)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
déficit multiple en sulfatases (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets