360691000146104: telomeropathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Telomere biology disorder (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Telomere biology disorder (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Telomere biology disorder (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Telomere biology disorder (disorder)

\Developmental disorder\Congenital malformation\Telomere biology disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2024. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

14616671000146117 Telomere biology disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14616691000146118 Telomere biology disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14616701000146118 Telomeropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14616681000146115 telomeropathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14616711000146116 telomeropathie 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
Telomere biology disorder (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Telomere biology disorder (disorder)	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Telomere biology disorder (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
Telomere biology disorder (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Telomere biology disorder (disorder)	Finding site	Chromosome	true	Inferred relationship	Some	1
Telomere biology disorder (disorder)	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	1
Telomere biology disorder (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets