764440006: syndrome de microdélétion 19p13.13 (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19 (disorder)\Deletion of short arm of chromosome 19 (disorder)\19p13.13 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 19\Deletion of part of chromosome 19 (disorder)\Deletion of short arm of chromosome 19 (disorder)\19p13.13 microdeletion syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19 (disorder)\Deletion of short arm of chromosome 19 (disorder)\19p13.13 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 19\Deletion of part of chromosome 19 (disorder)\Deletion of short arm of chromosome 19 (disorder)\19p13.13 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649841017	Monosomy 19p13.13	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649842012	19p13.13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649843019	19p13.13 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649844013	Chromosome 19p13.13 deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
766841000241113	syndrome de microdélétion 19p13.13 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
915661000172116	syndrome de microdélétion 19p13.13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
951121000172113	del(19)(p13.13)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3649601011	Syndrome with common characteristics of macrocephaly, tall stature and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, hypotonia and ataxia. Other manifestations include seizures, abnormalities of brain structure and mild facial dysmorphism for example prominent forehead. The syndrome is not typically inherited.	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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