152761000146102: glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

12817431000146115 Glycogen storage disease due to muscle beta-enolase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12817441000146111 Glycogen storage disease due to muscle beta-enolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12817451000146114 Glycogen storage disease type 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12817461000146112 GSD type XIII en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12822561000146116 glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12822571000146110 glycogenose door deficiëntie van bèta-enolase in spier nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12822581000146112 glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13672591000146110 GSD type XIII nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier	Occurrence	Congenital	false	Inferred relationship	Some	1
glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier	Is a	Glycogen storage disease	false	Inferred relationship	Some
glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier	Due to	Deficiency of enolase	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)