734016004: syndroom van 17p11.2-microduplicatie (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 17\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p11.2 microduplication syndrome (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p11.2 microduplication syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p11.2 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p11.2 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p11.2 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p11.2 microduplication syndrome (disorder)

Status: current, Not 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

3481854019 17p11.2 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3481855018 17p11.2 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3481856017 Potocki Lupski syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3481857014 Trisomy 17p11.2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7950161000146119 17p11.2-microduplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7950171000146113 syndroom van 17p11.2-microduplicatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7950181000146110 syndroom van 17p11.2-microduplicatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3481858016 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17p11.2 microduplication syndrome (disorder)	Is a	17p partial trisomy syndrome	true	Inferred relationship	Some
17p11.2 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
17p11.2 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
17p11.2 microduplication syndrome (disorder)	Finding site	Chromosome pair 17	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3481854019	17p11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481855018	17p11.2 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3481856017	Potocki Lupski syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3481857014	Trisomy 17p11.2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7950161000146119	17p11.2-microduplicatiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7950171000146113	syndroom van 17p11.2-microduplicatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7950181000146110	syndroom van 17p11.2-microduplicatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3481858016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core