loading...| Preferred Name | 22q11.2 deletion syndrome | |
| Synonyms |
Microdeletion 22q11.2 DiGeorge syndrome Conotruncal anomaly face syndrome DiGeorge sequence Cayler cardiofacial syndrome Sedlackova syndrome CATCH 22 22q11.2 deletion syndrome (disorder) Shprintzen syndrome Takao syndrome Velocardiofacial syndrome |
|
| Definitions |
A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/767263007 |
|
| Active |
1 |
|
| altLabel |
Microdeletion 22q11.2 DiGeorge syndrome Conotruncal anomaly face syndrome DiGeorge sequence Cayler cardiofacial syndrome Sedlackova syndrome CATCH 22 22q11.2 deletion syndrome (disorder) Shprintzen syndrome Takao syndrome Velocardiofacial syndrome |
|
| Associated finding of |
http://purl.bioontology.org/ontology/SNOMEDCT/64991000119107 |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
XV68o |
|
| cui |
C0012236 |
|
| definition |
A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20180731 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
767263007 |
|
| Occurs in | ||
| prefLabel |
22q11.2 deletion syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS D82.1 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~D82.1 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~Q93.81 900000000000497000~MAPTARGET~XV68o 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS Q93.81 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |