47535005: Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1230481016	Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2914551016	Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association	en	Synonym	Active	Case insensitive	SNOMED CT core
5036205018	Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5036206017	Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5036207014	CHARGE syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5036208016	CHARGE (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5036209012	Hall Hittner syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
79242013	CHARGE association	en	Synonym	Active	Case sensitive	SNOMED CT core
5036210019	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.	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

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