FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

228050004: 21q partial trisomy (disorder)

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

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

\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\21q partial trisomy (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy (disorder)

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

Descriptions:

Expanded Value Set

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

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4555283012	21q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555284018	21q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6011091000172114	trisomie partielle 21q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1244961000172119	partiële trisomie 21q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)