732259001: Distal monosomy 17q (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 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q
• \Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q
• \Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3465057014	Distal monosomy 17q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3465058016	Distal 17q deletion	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3465059012	Telomeric deletion 17q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	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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