764440006: 19p13.13 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19\Deletion of short arm of chromosome 19\19p13.13 microdeletion syndrome
• \Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of short arm of chromosome 19\19p13.13 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 19\Deletion of short arm of chromosome 19\19p13.13 microdeletion syndrome
• \Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of short arm of chromosome 19\19p13.13 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649841017	Monosomy 19p13.13	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649842012	19p13.13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3649843019	19p13.13 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649844013	Chromosome 19p13.13 deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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