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228050004: 21q partial trisomy (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy
\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\21q partial trisomy
\Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy

\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\21q partial trisomy

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

342042011 21q partial trisomy syndrome en Synonym Inactive Case sensitive SNOMED CT core
4555283012 21q partial trisomy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4555284018 21q partial trisomy en Synonym Active Case insensitive SNOMED CT core
615592013 21q partial trisomy syndrome (disorder) en Fully specified name Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
21q partial trisomy	Occurrence	Congenital	true	Inferred relationship	Some	2
21q partial trisomy	Is a	Partial trisomy of chromosome 21	true	Inferred relationship	Some
21q partial trisomy	Finding site	Chromosome pair 21	true	Inferred relationship	Some	2
21q partial trisomy	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
21q partial trisomy	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
21q partial trisomy	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
21q partial trisomy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
21q partial trisomy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
21q partial trisomy	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
21q partial trisomy	Is a	Anomaly of chromosome pair 21	false	Inferred relationship	Some
21q partial trisomy	Occurrence	Congenital	false	Inferred relationship	Some
21q partial trisomy	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
21q partial trisomy	Finding site	Sex chromosome	false	Inferred relationship	Some
21q partial trisomy	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
21q partial trisomy	Occurrence	Congenital	true	Inferred relationship	Some	1
21q partial trisomy	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
21q partial trisomy	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
21q partial distal trisomy	Is a	True	21q partial trisomy	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
342042011	21q partial trisomy syndrome	en	Synonym	Inactive	Case sensitive	SNOMED CT core
4555283012	21q partial trisomy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555284018	21q partial trisomy	en	Synonym	Active	Case insensitive	SNOMED CT core
615592013	21q partial trisomy syndrome (disorder)	en	Fully specified name	Inactive	Case sensitive	SNOMED CT core