1156418001: Malignant rhabdoid tumor (disorder)

• SNOMED CT Concept\constatation clinique\Disease\néoplasme et/ou hamartome\maladie néoplasique\Malignant neoplastic disease (disorder)\Primary malignant neoplasm (disorder)\Malignant rhabdoid tumour

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4574243010	Malignant rhabdoid tumour	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4574244016	Malignant rhabdoid tumor (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4574245015	Malignant rhabdoid tumor	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4574247011	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%.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4574595018	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%.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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