Chondrosarcoma

Preferred Label : Chondrosarcoma;

Type : Phenotype, molecular basis known;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the exostosin glycosyltransferase 1 gene (EXT1, 608177.0005);

Neoplasia : Chondrosarcoma;

Prefixed ID : #215300;

Details

Origin ID

215300;

UMLS CUI

C0008479;

Automatic exact mappings (from CISMeF team)
- Chondrosarcoma [ACR pathology]
- Chondrosarcoma [ACR pathology]
- Chondrosarcoma [ACR pathology]
- Chondrosarcoma NOS [ICD-9 code]
- NCI CTEP SDC Chondrosarcoma Sub-Category Terminology [NCIt concept]
Currated CISMeF NLP mapping
- Chondrosarcoma [PASCAL descriptor]
- Chondrosarcoma [HPO term]
- Chondrosarcoma [MedDRA Preferred Term]
- Chondrosarcoma [NCIt concept]
- Chondrosarcoma [ORDO Disease]
- Chondrosarcoma (disorder) [SNOMED CT concept]
- Chondrosarcoma NOS [MedDRA LLT]
- Chondrosarcoma, NOS [ICD-O code]
- Chondrosarcoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [Inactive SNOMED CT concept]
- chondrosarcoma [Disease (Nov.)]
- chondrosarcoma [DO Concept]
- chondrosarcoma [MeSH Descriptor]
- chondrosarcoma [MeSH concept]
- chondrosarcoma [Radlex concept]
- chondrosarcoma, nos [SNOMED Notion]
DO Cross reference
- chondrosarcoma [DO Concept]
Genes related to phenotype
- Exostosin glycosyltransferase 1 [OMIM gene]
HPO term(s)
- Chondrosarcoma [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Chondrosarcoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Chondroma sarcomatosum [MedDRA LLT]
- Chondrosarcoma [MedDRA Preferred Term]
- Chondrosarcoma [ORDO Disease]
- Chondrosarcoma [NCIt concept]
- Chondrosarcoma [HPO term]
- Chondrosarcoma [PASCAL descriptor]
- Chondrosarcoma (disorder) [SNOMED CT concept]
- Chondrosarcoma (morphologic abnormality) [SNOMED CT concept]
- Chondrosarcoma NOS [MedDRA LLT]
- Chondrosarcoma, NOS [ICD-O code]
- Chondrosarcoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [Inactive SNOMED CT concept]
- chondrosarcoma [MeSH Descriptor]
- chondrosarcoma [MeSH concept]
- chondrosarcoma [Radlex concept]
- chondrosarcoma [DO Concept]
- chondrosarcoma [Disease (Nov.)]
- chondrosarcoma, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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