770411000: Distal monosomy 19p13.3 (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\Distal monosomy 19p13.3
• \Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of short arm of chromosome 19\Distal monosomy 19p13.3
• \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\Distal monosomy 19p13.3
• \Anomaly of chromosome pair 19\Deletion of part of chromosome 19\Deletion of short arm of chromosome 19\Distal monosomy 19p13.3

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3700742012	Distal monosomy 19p13.3 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3700744013	Distal monosomy 19p13.3	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3700743019	A rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).	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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