719658006: 2q24 microdeletion 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 2\Deletion of part of long arm of chromosome 2\2q24 microdeletion syndrome
• \Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of long arm of chromosome 2\2q24 microdeletion syndrome
• \Congenital disease\Congenital anomaly\2q24 microdeletion 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 2\Deletion of part of long arm of chromosome 2\2q24 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of long arm of chromosome 2\2q24 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\2q24 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317273012	2q24 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317274018	2q24 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317275017	Monosomy 2q24	en	Synonym	Active	Case insensitive	SNOMED CT core
3317276016	A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	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