Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3717163013 | Rhabdoid tumour predisposition syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3717164019 | Rhabdoid tumor predisposition syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3717165018 | Rhabdoid tumor predisposition syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3717166017 | Familial rhabdoid tumor | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3717167014 | Familial rhabdoid tumour | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6392991000146112 | familiaire rabdoïde tumor | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7010991000146112 | syndroom van predispositie voor rabdoïde neoplasma | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7011001000146111 | syndroom van predispositie voor rabdoïde tumor | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7011011000146113 | syndroom van predispositie voor rabdoïde neoplasma (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Rhabdoid tumour predisposition syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Rhabdoid tumour predisposition syndrome | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Rhabdoid tumour predisposition syndrome | Occurrence | Early childhood (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Rhabdoid tumor predisposition syndrome type 2 | Is a | True | Rhabdoid tumour predisposition syndrome | Inferred relationship | Some | |
| Rhabdoid tumor predisposition syndrome type 1 (disorder) | Is a | True | Rhabdoid tumour predisposition syndrome | Inferred relationship | Some |
This concept is not in any reference sets
FHIR