765171002: Distal chromosome 18q deletion 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 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Distal chromosome 18q deletion syndrome
• \Anomaly of chromosome pair 18\Deletion of part of chromosome 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Distal chromosome 18q deletion 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 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Distal chromosome 18q deletion syndrome
• \Anomaly of chromosome pair 18\Deletion of part of chromosome 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Distal chromosome 18q deletion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3657315019	Distal 18q deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657316018	Distal monosomy 18q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657320019	Distal chromosome 18q deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657321015	Distal chromosome 18q deletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3657319013	A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited.	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

Description inactivation indicator reference set

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