FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

33706001: syndroom van partiële trisomie 7q (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 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q 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
7q partial trisomy (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
7q partial trisomy (disorder)	Is a	Anomaly of chromosome pair 7	false	Inferred relationship	Some
7q partial trisomy (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
7q partial trisomy (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some
7q partial trisomy (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
7q partial trisomy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
7q partial trisomy (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
7q partial trisomy (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
7q partial trisomy (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
7q partial trisomy (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
7q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
7q partial trisomy (disorder)	Finding site	Chromosome pair 7	true	Inferred relationship	Some	1
7q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
7q partial trisomy (disorder)	Is a	Partial trisomy of chromosome 7 (disorder)	true	Inferred relationship	Some
7q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
7q partial trisomy (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
7q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
7q11.23 microduplication syndrome (disorder)	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
Distal 7q11.23 microduplication syndrome (disorder)	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
Distal trisomy 7q (disorder)	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
Medial duplication of long arm of chromosome 7 (disorder)	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
Proximal duplication of long arm of chromosome 7	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
56271011	7q partial trisomy syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
765142019	7q partial trisomy syndrome (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555205019	7q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555206018	7q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7965141000146118	syndroom van partiële trisomie 7q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965151000146115	partiële trisomie van chromosoom 7q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965161000146117	syndroom van partiële trisomie 7q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965171000146111	partiële trisomie van lange arm van chromosoom 7	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)