| 22q11.2-deletiesyndroom (aandoening) | | 22q11.2-deletiesyndroom | | 22q11DS
Cayler cardiofaciaal syndroom
Shprintzen-syndroom
Takao-syndroom
monosomie 22q11.2
CATCH 22
VCFS
syndroom van DiGeorge
velocardiofaciaal syndroom
Sedlackova-syndroom
'conotruncal anomaly face'-syndroom
| | VCFS | | Velocardiofaciaal syndroom; aangeboren chromosoomafwijking met als mogelijke kenmerken een zacht gehemelte (velo), hartproblemen (cardio) en een karakteristiek lang, smal gelaat (facial), soms ook leerproblemen of verstandelijke achterstand. | | 22q11.2 deletion syndrome | | Takao syndrome
Cayler cardiofacial syndrome
Shprintzen syndrome
Conotruncal anomaly face syndrome
Microdeletion 22q11.2
CATCH 22
Velocardiofacial syndrome
Sedlackova syndrome
DiGeorge syndrome
DiGeorge sequence
| | 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 | 767263007 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 567 |
| SNOMED CT to ICD-10 extended map | | Target | D82.1 | | Rule | TRUE | | Advice | ALWAYS D82.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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