FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

396338004: Metachromatic leucodystrophy (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
1764255014 Metachromatic leucodystrophy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1776290017 Metachromatic leukodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
1783561011 Sulphatide lipidosis en Synonym Active Entire term case insensitive SNOMED CT core module
1783953013 Sulfatide lipidosis en Synonym Active Entire term case insensitive SNOMED CT core module
1785556011 MLD en Synonym Active Entire term case sensitive SNOMED CT core module
1785557019 Metachromatic leucodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
1785558012 Metachromatic leukoencephaly en Synonym Active Entire term case insensitive SNOMED CT core module
1785559016 van Bogaert-Nijssen disease en Synonym Active Entire term case sensitive SNOMED CT core module
1785560014 Familial progressive cerebral sclerosis en Synonym Active Entire term case insensitive SNOMED CT core module
1785561013 MLD - Metachromatic leucodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module


9 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metachromatic leucodystrophy Is a Sphingolipidosis true Inferred relationship Existential restriction modifier
Metachromatic leucodystrophy Finding site Body system structure false Inferred relationship Existential restriction modifier

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

This concept is not in any reference sets

Back to Start