396338004: Metachromatic leucodystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\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

974211000052115 metakromatisk leukodystrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metachromatic leucodystrophy (disorder)	Is a	Sphingolipidosis	true	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Arylsulfatase A deficiency	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, congenital type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leucodystrophy, juvenile type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy, late infantile type	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Sphingolipid activator protein 1 deficiency	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy without arylsulfatase deficiency	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	Is a	True	Metachromatic leucodystrophy (disorder)	Inferred relationship	Some

This concept is not in any reference sets