Code System Concept

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Code System Concept

Code System Concept Code	764629008
Code System Concept Name	Mosaic trisomy 5 syndrome (disorder)
Code System Preferred Concept Name	Mosaic trisomy 5 syndrome (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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3654265019	Trisomy 5 mosaicism	Active	Synonym	false	false
3654267010	Mosaic trisomy 5 syndrome	Active	Synonym	false	false
3654268017	Mosaic trisomy chromosome 5	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Anomaly of chromosome pair 5 (disorder) {57361003 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , SNOMED-CT } Trisomy and partial trisomy of autosome (disorder) {270521004 , 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,