698849002: tetrasomie 18p (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Tetrasomy 18p

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Tetrasomy 18p

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2981459011 Tetrasomy 18p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2981462014 18p tetrasomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2981466012 Tetrasomy 18p (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2981491012 18p isochromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10258291000146112 tetrasomie 18p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10258301000146111 tetrasomie 18p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10258311000146113 18p-isochromosoom-syndroom 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
Tetrasomy 18p	Is a	Anomaly of chromosome pair 18	true	Inferred relationship	Some
Tetrasomy 18p	Occurrence	Congenital	false	Inferred relationship	Some
Tetrasomy 18p	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Tetrasomy 18p	Occurrence	Congenital	true	Inferred relationship	Some	1
Tetrasomy 18p	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Tetrasomy 18p	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
Tetrasomy 18p	Occurrence	Congenital	true	Inferred relationship	Some	2
Tetrasomy 18p	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
Tetrasomy 18p	Associated morphology	Tetrasomy	true	Inferred relationship	Some	1
Tetrasomy 18p	Associated morphology	Tetrasomy	true	Inferred relationship	Some	2

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets