Medulloblastoma, SHH-4

Preferred Label : Medulloblastoma, SHH-4;

NCIt synonyms : SHH-4 Medulloblastoma;

NCIt definition : Medulloblastoma, SHH-activated, characterized by mutations of U1-snRNA and TERT genes. Mutations of PTCH1 or SMO genes are usually also present. It affects mostly adults.;

Neoplastic status : Malignant;

Concept status : Provisional_Concept;

NCI Metathesaurus CUI : CL1798616;

Details

Origin ID

C189846;

UMLS CUI

C5708782;

Disease may have findings
- Ataxic Gait [NCIt concept]
- Headache [NCIt concept]
- Vomiting [NCIt concept]
Excludes anatomical site(s)
- Spinal Cord [NCIt concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Cerebellum [NCIt concept]
- Infratentorial Brain [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Multilayered Rosette Formation [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Neuroectodermal Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_finding
- Malignant Cellular Infiltrate [NCIt concept]
- Poorly Differentiated Lesion [NCIt concept]
- Sonic Hedgehog/Patch Pathway Activated [NCIt concept]
disease_has_grade
- Grade 4 [NCIt concept]
disease_has_molecular_abnormality
- TERT Gene Mutation [NCIt concept]
- U1 snRNA Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Cerebellum [NCIt concept]
disease_may_have_molecular_abnormality
- PTCH1 Gene Mutation [NCIt concept]
- SMO Gene Mutation [NCIt concept]

Keyword's position in hierarchy(ies) :

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