890110004: 17q23.1-q23.2 duplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\17q23.1-q23.2 duplication syndrome
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\17q23.1-q23.2 duplication syndrome
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
• \Congenital disease (disorder)\Congenital malformation\17q23.1-q23.2 duplication syndrome
• \Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
• \Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
• \Developmental disorder\Developmental hereditary disorder\17q23.1-q23.2 duplication syndrome
• \Developmental disorder\Congenital malformation\17q23.1-q23.2 duplication syndrome

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
4008407010	17q23.1-q23.2 duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4008408017	17q23.1-q23.2 duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4828181000052113	17q23.1-q23.2-duplikationssyndromet	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

This concept is not in any reference sets

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