773325004: syndroom van distale 7q11.23-microduplicatie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Distal 7q11.23 microduplication syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal 7q11.23 microduplication syndrome (disorder)
• \Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal 7q11.23 microduplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal 7q11.23 microduplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal 7q11.23 microduplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal 7q11.23 microduplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal 7q11.23 microduplication syndrome (disorder)
• \Developmental disorder\Congenital malformation\Distal 7q11.23 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723178015	Distal trisomy 7q11.23	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723180014	Distal 7q11.23 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723181013	Distal 7q11.23 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7966731000146115	syndroom van distale 7q11.23-microduplicatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7966751000146114	syndroom van distale 7q11.23-microduplicatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7966841000146117	distale 7q11.23-microduplicatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3723179011	A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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