Hereditary Neuroblastoma

Preferred Label : Hereditary Neuroblastoma;

NCIt synonyms : Familial Neuroblastoma;

NCIt definition : Genetic inheritance of neuroblastoma caused by mutations in the ALK or PHOX2B genes. Familial neuroblastomas have a higher incidence of multiple primary tumors and are diagnosed at an earlier age.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL433972;

Details

Origin ID

C115225;

UMLS CUI

C3899155;

Disease excludes abnormal cell
- Neoplastic Ganglion Cell [NCIt concept]
Disease may have findings
- Hemorrhage [NCIt concept]
Has associated anatomic sites
- 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]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Prominent Schwannian Stroma Present [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Neuroblast [NCIt concept]
- Malignant Neuroectodermal Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Increased Cellularity Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Neuroectodermal Differentiation [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
- Neuroblast [NCIt concept]
- Neuroectodermal Cell [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
- Neuroectoderm [NCIt concept]
disease_has_primary_anatomic_site
- Nervous System [NCIt concept]
disease_mapped_to_gene
- ALK Gene [NCIt concept]
- PHOX2B Gene [NCIt concept]
disease_may_have_molecular_abnormality
- ALK Gene Mutation [NCIt concept]
- PHOX2B Gene Mutation [NCIt concept]
pathogenesis_of_disease_involves_gene
- ALK Gene [NCIt concept]
- ALK wt Allele [NCIt concept]
- ALKATI Allele [NCIt concept]
- PHOX2B Gene [NCIt concept]
- PHOX2B wt Allele [NCIt concept]
related_to_genetic_biomarker
- ALK Gene [NCIt concept]
- PHOX2B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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