726338000: partiële trisomie van chromosoom 1 (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 1\Partial trisomy of chromosome 1

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498261017 Partial trisomy of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498262012 Duplication of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498263019 Partial trisomy of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7990761000146112 syndroom van partiële trisomie 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7990771000146118 partiële trisomie van chromosoom 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7990781000146116 partiële trisomie van chromosoom 1 (aandoening) nl Fully specified name 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
Partial trisomy of chromosome 1	Is a	Anomaly of chromosome pair 1	true	Inferred relationship	Some
Partial trisomy of chromosome 1	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 1	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 1	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
1q partial trisomy syndrome	Is a	False	Partial trisomy of chromosome 1	Inferred relationship	Some
Partial trisomy of short arm of chromosome 1 (disorder)	Is a	True	Partial trisomy of chromosome 1	Inferred relationship	Some
Partial trisomy of long arm of chromosome 1 (disorder)	Is a	True	Partial trisomy of chromosome 1	Inferred relationship	Some

This concept is not in any reference sets