768713003: 15q13.3 microduplication syndrome (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 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q13.3 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q13.3 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q13.3 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q13.3 microduplication syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\15q13.3 microduplication syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q13.3 microduplication syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15 (disorder)\15q13.3 microduplication syndrome (disorder)

\Developmental disorder\Congenital malformation\15q13.3 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3686603014 15q13.3 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3686604015 15q13.3 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5009221000172117 syndroom van 15q13.3-microduplicatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5009231000172119 15q13.3-microduplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
15q13.3 microduplication syndrome (disorder)	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
15q13.3 microduplication syndrome (disorder)	Is a	trisomie partielle 15q	false	Inferred relationship	Some
15q13.3 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
15q13.3 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
15q13.3 microduplication syndrome (disorder)	Is a	Partial duplication of long arm of chromosome 15 (disorder)	true	Inferred relationship	Some
15q13.3 microduplication syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
15q13.3 microduplication syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
15q13.3 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
15q13.3 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
15q13.3 microduplication syndrome (disorder)	Finding site	Chromosome pair 15	true	Inferred relationship	Some	2
15q13.3 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
15q13.3 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets