loading...| Preferred Name |
Malignant rhabdoid tumor |
|
| Synonyms |
Malignant rhabdoid tumour Malignant rhabdoid tumor (disorder) |
|
| Definitions |
An aggressive neoplasm that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. The disease usually occurs in infancy or childhood, exceptional cases can occur in adolescents and adults. 90% of cases have biallelic inactivation of SMARCB1 (22q11.23). Rare cases are associated with a biallelic mutation of SMARCA4 (19p13.3) (encoding another SWI/SNF chromatin-remodelling complex member). In 25% of cases, the disease is associated with a germline mutation of SMARCB1. Rarely, germline mutations are inherited from asymptomatic parents, either because of gonadal mosaicism or incomplete penetrant mutations. The survival rate is low with a 5 year survival rate of 20%. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1156418001 |
|
| Active |
1 |
|
| altLabel |
Malignant rhabdoid tumour Malignant rhabdoid tumor (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
XVG7Z |
|
| cui |
C0206743 |
|
| definition |
An aggressive neoplasm that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. The disease usually occurs in infancy or childhood, exceptional cases can occur in adolescents and adults. 90% of cases have biallelic inactivation of SMARCB1 (22q11.23). Rare cases are associated with a biallelic mutation of SMARCA4 (19p13.3) (encoding another SWI/SNF chromatin-remodelling complex member). In 25% of cases, the disease is associated with a germline mutation of SMARCB1. Rarely, germline mutations are inherited from asymptomatic parents, either because of gonadal mosaicism or incomplete penetrant mutations. The survival rate is low with a 5 year survival rate of 20%. An aggressive neoplasm that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. The disease usually occurs in infancy or childhood, exceptional cases can occur in adolescents and adults. 90% of cases have biallelic inactivation of SMARCB1 (22q11.23). Rare cases are associated with a biallelic mutation of SMARCA4 (19p13.3) (encoding another SWI/SNF chromatin-remodeling complex member). In 25% of cases, the disease is associated with a germline mutation of SMARCB1. Rarely, germline mutations are inherited from asymptomatic parents, either because of gonadal mosaicism or incomplete penetrant mutations. The survival rate is low with a 5 year survival rate of 20%. |
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| DEFINITION STATUS ID |
900000000000073002 |
|
| Effective time |
20210731 |
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| Has associated morphology | ||
| notation |
1156418001 |
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| prefLabel |
Malignant rhabdoid tumor |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 404089007 | Extrarenal rhabdoid tumor | 447562003~MAPADVICE~ALWAYS C49.9 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE 6011000124106~MAPADVICE~ALWAYS C80.1 900000000000497000~MAPTARGET~XVG7Z 6011000124106~MAPGROUP~1 447562003~MAPTARGET~C49.9 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 6011000124106~MAPTARGET~C80.1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF EXTRARENAL RHABDOID TUMOR CHOOSE C48.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPTARGET~C48.0 6011000124106~MAPPRIORITY~2 |
|
| tui |
T191 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |