782673001: Distal monosomy 4q (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 4\4q partial monosomy syndrome\Distal monosomy 4q
• \Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Distal monosomy 4q
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4\4q partial monosomy syndrome\Distal monosomy 4q
• \Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Distal monosomy 4q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755100012	Distal monosomy 4q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755101011	Distal deletion 4q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755102016	Distal monosomy 4q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3755103014	Telomeric deletion 4q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755104015	A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.	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

Back to Start