772130002: Rhabdoid tumor predisposition syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\Genetic disease\Hereditary disease\...
• \Hereditary neoplastic syndrome\Rhabdoid tumour predisposition syndrome
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Rhabdoid tumour predisposition syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3717163013	Rhabdoid tumour predisposition syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3717164019	Rhabdoid tumor predisposition syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3717165018	Rhabdoid tumor predisposition syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3717166017	Familial rhabdoid tumor	en	Synonym	Active	Case insensitive	SNOMED CT core
3717167014	Familial rhabdoid tumour	en	Synonym	Active	Case insensitive	SNOMED CT core
3717168016	High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours 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 tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours 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.	en	Definition	Active	Case sensitive	SNOMED CT core
3717169012	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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Problem/Diagnosis reference set

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