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 chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q32 duplication syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \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, Primitive. Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5084162011	14q32 duplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5084163018	14q32 duplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5084164012	Trisomy 14q32	en	Synonym	Active	Case insensitive	SNOMED CT core
5084165013	Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication	en	Synonym	Active	Case insensitive	SNOMED CT core
5084166014	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukaemia, chronic myelomonocytic leukaemia and myeloproliferative neoplasms especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukaemia can be observed.	en	Definition	Active	Case sensitive	SNOMED CT core
5084167017	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia and myeloproliferative neoplasms especially essential thrombocythaemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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