732259001: monosomie distale 17q (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\Distal monosomy 17q (disorder)
• \anomalie du chromosome 17 (trouble)\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\Distal monosomy 17q (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\Distal monosomy 17q (disorder)
• \anomalie du chromosome 17 (trouble)\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\Distal monosomy 17q (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3465056017	Distal monosomy 17q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465057014	Distal monosomy 17q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465058016	Distal 17q deletion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465059012	Telomeric deletion 17q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762571000241119	monosomie distale 17q (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
921851000172110	délétion distale 17q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
982661000172113	monosomie distale 17q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3465060019	A very rare chromosomal disorder of unknown prevalence with characteristics of multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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