1234830005: 14q32 duplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\14q32 duplication syndrome
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome
• \Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome
• \Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome
• \Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5084162011	14q32 duplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5084163018	14q32 duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5084164012	Trisomy 14q32	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5084165013	Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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