1156418001: Malignant rhabdoid tumor (disorder)

• SNOMED CT Concept\Clinical finding\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Malignant rhabdoid tumour

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4574243010	Malignant rhabdoid tumour	en	Synonym	Active	Case insensitive	SNOMED CT core
4574244016	Malignant rhabdoid tumor (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4574245015	Malignant rhabdoid tumor	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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