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1156418001: Malignant rhabdoid tumor (disorder)


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
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
3445091001000115 Rhabdoidtumor de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6378121000241116 tumeur rhabdoïde maligne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6378131000241119 néoplasme rhabdoïde malin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6378121000241116 tumeur rhabdoïde maligne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6378131000241119 néoplasme rhabdoïde malin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445091001000115 Rhabdoidtumor de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Malignant rhabdoid tumour Is a Primary malignant neoplasm (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Malignant rhabdoid tumour Associated morphology Malignant rhabdoid tumor (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Malignant rhabdoid tumour Is a Malignant neoplastic disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Extrarenal rhabdoid tumor (disorder) Is a True Malignant rhabdoid tumour Inferred relationship Existential restriction modifier (core metadata concept)
Primary malignant rhabdoid tumour Is a True Malignant rhabdoid tumour Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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