782669004: 10q22.3q23.3 microduplication syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
• \anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 10 (trouble)\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\...
• \Anomaly of chromosome pair\anomalie du chromosome 10 (trouble)\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
• \Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755079010	10q22.3q23.3 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755080013	10q22.3q23.3 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755081012	Trisomy 10q22.3q23.3	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755082017	A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects 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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