Medulloblastoma, SHH-Activated, TP53-Mutant

Preferred Label : Medulloblastoma, SHH-Activated, TP53-Mutant;

NCIt related terms : Medulloblastoma, SHH-activated and TP53-mutant;

NCIt definition : Medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL512715;

Details

Origin ID

C129442;

UMLS CUI

C4330669;

Automatic exact mappings (from CISMeF team)
- Medulloblastoma, SHH-activated and TP53-mutant [ICD-11 Extension code]
DO Cross reference
- medulloblastoma SHH activated and TP53 mutant [DO Concept]
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
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Multilayered Rosette Formation [NCIt concept]
disease_excludes_molecular_abnormality
- ELP1 Gene Mutation [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
- TP53 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]

Keyword's position in hierarchy(ies) :

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