396338004: leucodystrophie métachromatique (trouble)

SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\Sphingolipidosis\Metachromatic leucodystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1764255014 Metachromatic leucodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1776290017 Metachromatic leukodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1783561011 Sulphatide lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1783953013 Sulfatide lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1785556011 MLD en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1785557019 Metachromatic leucodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1785558012 Metachromatic leukoencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1785559016 van Bogaert-Nijssen disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1785560014 Familial progressive cerebral sclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1785561013 MLD - Metachromatic leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

306701000172114 leucodystrophie métachromatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

628471000241117 leucodystrophie métachromatique (trouble) fr Fully specified name 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
Metachromatic leucodystrophy (disorder)	est un(e) (attribut)	Sphingolipidosis	true	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Arylsulfatase A deficiency	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
forme congénitale de leucodystrophie métachromatique	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leucodystrophy, late infantile type	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Sphingolipid activator protein 1 deficiency	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy without arylsulfatase deficiency	est un(e) (attribut)	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some

This concept is not in any reference sets