| syndroom van predispositie voor rabdoïde neoplasma (aandoening) | | syndroom van predispositie voor rabdoïde neoplasma | | familiaire rabdoïde tumor
syndroom van predispositie voor rabdoïde tumor
| | Rhabdoid tumor predisposition syndrome | | Familial rhabdoid tumor
| | High risk of developing malignant rhabdoid tumors that are highly aggressive and rare in the general population. The tumors usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumors spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumors develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. |
| | Id | 772130002 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | | | Rule | TRUE | | Advice | MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA | | Correlation | SNOMED CT source code to target map code correlation not specified |
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