880079009: syndroom van 11p15-duplicatie (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\11p15 duplication syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Partial trisomy of chromosome 11 (disorder)\11p partial trisomy syndrome\11p15 duplication syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p partial trisomy syndrome\11p15 duplication syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p partial trisomy syndrome\11p15 duplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p partial trisomy syndrome\11p15 duplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Partial trisomy of chromosome 11 (disorder)\11p partial trisomy syndrome\11p15 duplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p partial trisomy syndrome\11p15 duplication syndrome (disorder)

\Developmental disorder\Congenital malformation\11p15 duplication syndrome (disorder)

Status: current, Not 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

3994439013 11p15 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3994440010 11p15 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12209191000146110 syndroom van 11p15-duplicatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12209201000146112 11p15-duplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12209211000146114 syndroom van 11p15-duplicatie (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
11p15 duplication syndrome (disorder)	Is a	11p partial trisomy syndrome	true	Inferred relationship	Some
11p15 duplication syndrome (disorder)	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
11p15 duplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
11p15 duplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
11p15 duplication syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
11p15 duplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets