1003389000: Mosaic 1q duplication (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 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

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

Descriptions:

Id Description Lang Type Status Case? Module

4168139015 Mosaic 1q duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168140018 Mosaic 1q duplication (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4823801000052115 mosaik-1q-duplikation sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic 1q duplication	Is a	Mosaic trisomy 1 syndrome	false	Inferred relationship	Some
Mosaic 1q duplication	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic 1q duplication	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic 1q duplication	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1
Mosaic 1q duplication	Finding site	Chromosome pair 1	true	Inferred relationship	Some	3
Mosaic 1q duplication	Associated morphology	Partial trisomy	true	Inferred relationship	Some	3
Mosaic 1q duplication	Occurrence	Congenital	true	Inferred relationship	Some	3
Mosaic 1q duplication	Is a	Partial trisomy of long arm of chromosome 1 (disorder)	true	Inferred relationship	Some
Mosaic 1q duplication	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Mosaic 1q duplication	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Mosaic 1q duplication	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets