782674007: Distal monosomy 7p syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Distal monosomy 7p syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\Distal monosomy 7p syndrome (disorder)
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\Distal monosomy 7p syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\Distal monosomy 7p syndrome (disorder)
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\Distal monosomy 7p syndrome (disorder)
• \Developmental disorder\Congenital malformation\Distal monosomy 7p syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755105019	Telomeric deletion 7p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755106018	Distal deletion 7p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755108017	Distal monosomy 7p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4571147015	Distal monosomy 7p syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4571148013	Distal monosomy 7p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	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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