Code System Concept

Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Code System Concept

Code System Concept Code	1251450006
Code System Concept Name	16p12.1p12.3 triplication syndrome (disorder)
Code System Preferred Concept Name	16p12.1p12.3 triplication 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Superseded By Concept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	03/01/2023
SDO Date Created	09/30/2022
SDO Date Revised	09/30/2022
Description	A rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16. The syndrome has characteristics of global developmental delay, pre or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or less commonly infantile hepatic disease. Patients are also reported to have tapered fingers.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5133532016	16p12.1p12.3 triplication syndrome	Active	Synonym	false	false
5133533014	Tetrasomy 16p12.1p12.3	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Anomaly of chromosome pair 16 (disorder) {53392002 , SNOMED-CT } Congenital anomaly of finger (disorder) {20948006 , SNOMED-CT } Global developmental delay (disorder) {224958001 , SNOMED-CT } Multiple malformation syndrome with facial-limb defects as major feature (disorder) {23359005 , 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,