Code System Concept

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Code System Concept

Code System Concept Code	721158009
Code System Concept Name	Deletion 5q35 (disorder)
Code System Preferred Concept Name	Deletion 5q35 (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly and significant cardiac defects. Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3324481017	Deletion 5q35	Active	Synonym	false	false
3332028014	Telomeric deletion 5q	Active	Synonym	false	false
3332029018	Distal 5q deletion syndrome	Active	Synonym	false	false
3332030011	Monosomy 5q35	Active	Synonym	false	false
4565163018	Distal 5q deletion	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Anomaly of chromosome pair 5 (disorder) {57361003 , SNOMED-CT } Deletion of part of autosome (disorder) {254274004 , SNOMED-CT } Deletion of part of long arm of chromosome 5 (disorder) {726373003 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,