782674007: Distal monosomy 7p 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 7\7p partial monosomy\Distal monosomy 7p syndrome
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7p partial monosomy\Distal monosomy 7p syndrome
• \Congenital disease\Congenital anomaly\Distal monosomy 7p 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 7\7p partial monosomy\Distal monosomy 7p syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7p partial monosomy\Distal monosomy 7p syndrome
• \Developmental disorder\Congenital anomaly\Distal monosomy 7p syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755105019	Telomeric deletion 7p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755106018	Distal deletion 7p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755108017	Distal monosomy 7p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4571147015	Distal monosomy 7p syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4571148013	Distal monosomy 7p syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3755109013	A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	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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