Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Concept
Code System Concept Code | 47535005 |
Code System Concept Name | Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) |
Code System Preferred Concept Name | Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
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Superseded By Concept | |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 | 01/31/2002 |
SDO Date Created | 01/31/2002 |
SDO Date Revised | 01/31/2002 |
Description | A multiple congenital anomaly syndrome with characteristics of variable combination of multiple anomalies, mainly coloboma; choanal atresia/stenosis; cranial nerve dysfunction; characteristic ear anomalies (known as the major 4 C's). The syndrome shows a variable clinical picture, even within a family, depending on the associated anomalies. In most cases, CHARGE syndrome is due to heterozygous mutations in CHD7 (8q12.2) encoding the chromodomain helicase DNA-binding protein. CHARGE syndrome is either sporadic or shows an autosomal dominant transmission. There is a 1-2% risk of gonadal mosaicism. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
1230481016 | Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome | Active | Synonym | false | false |
1230482011 | Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome (disorder) | Active | Synonym | false | false |
2620800011 | Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association | Active | Synonym | false | false |
2914551016 | Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association | Active | Synonym | false | false |
5036206017 | Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome | Active | Synonym | false | false |
5036207014 | CHARGE syndrome | Active | Synonym | false | false |
5036208016 | CHARGE (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies) syndrome | Active | Synonym | false | false |
5036209012 | Hall Hittner syndrome | Active | Synonym | false | false |
79242013 | CHARGE association | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: