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396338004: Metachromatic leucodystrophy (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
1776290017 Metachromatic leukodystrophy en Synonym Active Case insensitive SNOMED CT core
1783561011 Sulphatide lipidosis en Synonym Active Case insensitive SNOMED CT core
1783953013 Sulfatide lipidosis en Synonym Active Case insensitive SNOMED CT core
1785556011 MLD en Synonym Active Case sensitive SNOMED CT core
1785557019 Metachromatic leucodystrophy en Synonym Active Case insensitive SNOMED CT core
1785558012 Metachromatic leukoencephaly en Synonym Active Case insensitive SNOMED CT core
1785559016 van Bogaert-Nijssen disease en Synonym Active Case sensitive SNOMED CT core
1785560014 Familial progressive cerebral sclerosis en Synonym Active Case insensitive SNOMED CT core
1785561013 MLD - Metachromatic leucodystrophy en Synonym Active Case sensitive SNOMED CT core


9 descendants. Search Descendants:

Expanded Value Set


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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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