Rhabdoid Tumor Predisposition Syndrome

Preferred Label : Rhabdoid Tumor Predisposition Syndrome;

NCIt synonyms : Familial Posterior Fossa Brain Tumor Syndrome of Infancy; Rhabdoid Predisposition Syndrome;

NCIt definition : An autosomal dominant-inherited neoplastic predisposition syndrome caused by mutation(s) in the SMARCB1 or SMARCA4 genes. It is characterized by the development of atypical teratoid/rhabdoid tumors in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.;

NCI Metathesaurus CUI : CL425150;

Details

Origin ID

C93268;

UMLS CUI

C2985524;

Currated CISMeF NLP mapping
- Familial rhabdoid tumor [ORDO Disease]
- Rhabdoid tumor predisposition syndrome [OMIM phenotypic series]
- Rhabdoid tumor predisposition syndrome (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- atypical teratoid rhabdoid medulloblastoma [Disease (Nov.)]
- atypical teratoid rhabdoid tumor [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhabdoid tumor predisposition syndrome (disorder) [SNOMED CT concept]
disease_has_associated_disease
- Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_may_have_associated_disease
- Choroid Plexus Carcinoma [NCIt concept]
- Medulloblastoma [NCIt concept]
- Supratentorial Embryonal Tumor, Not Otherwise Specified [NCIt concept]
related_to_genetic_biomarker
- SMARCA4 Gene [NCIt concept]
- SMARCB1 Gene [NCIt concept]

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