773346008: 20p13 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 20\Deletion of part of short arm of chromosome 20\20p13 microdeletion syndrome
• \Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p13 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20p13 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 20\Deletion of part of short arm of chromosome 20\20p13 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p13 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20p13 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723250014	20p13 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723251013	20p subtelomeric deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723252018	Monosomy 20p13	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723253011	20p13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723254017	A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	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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