189979005: vroeg optredende globoïdcellige leukodystrofie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galactosylceramide lipidosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

291916011 Galactosylceramide lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

291917019 Familial infantile diffuse brain sclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

291918012 Diffuse globoid body sclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

573498013 Globoid cell leukodystrophy, early onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2668834014 Globoid cell leukodystrophy, early onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6222491000146117 vroeg optredende globoïdcellige leukodystrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6222501000146110 infantiele vorm van ziekte van Krabbe nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6222511000146112 vroeg optredende globoïdcellige leukodystrofie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6222531000146117 galactosylceramidelipidose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6990061000146114 infantiele familiale verspreide hersensclerose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Galactosylceramide lipidosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Galactosylceramide lipidosis	Due to	Galactocerebroside beta-galactosidase deficiency - early onset	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set