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396338004: 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
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


10 descendants. Search Descendants:

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
Metachromatic leucodystrophy (disorder) Is a Leucodystrophy true Inferred relationship Some
Metachromatic leucodystrophy (disorder) Finding site Myelinated nerve fiber structure true Inferred relationship Some 1
Metachromatic leucodystrophy (disorder) Associated morphology Myelin sheath alteration true Inferred relationship Some 1
Metachromatic leucodystrophy (disorder) Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 2
Metachromatic leucodystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Metachromatic leucodystrophy (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Metachromatic leucodystrophy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Metachromatic leucodystrophy (disorder) Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Metachromatic leucodystrophy (disorder) Occurrence Congenital true Inferred relationship Some 3

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
Dystonia due to metachromatic leucodystrophy (disorder) Due to True Metachromatic leucodystrophy (disorder) Inferred relationship Some 3
Dystonia due to metachromatic leucodystrophy (disorder) Is a True Metachromatic leucodystrophy (disorder) Inferred relationship Some

This concept is not in any reference sets

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