Chordoma, susceptibility to

Preferred Label : Chordoma, susceptibility to;

Symbol : CHDM;

CISMeF acronym : CHDM;

Type : Phenotype, molecular basis known;

Description : Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread (Stepanek et al., 1998). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by McMaster et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by duplication of the homolog of the mouse T brachyury gene (T, 601397);

Prefixed ID : #215400;

Details

Origin ID

215400;

UMLS CUI

C5441694;

Currated CISMeF NLP mapping
- Chordoma [PASCAL descriptor]
- Chordoma [ICD-11 More detail]
- Chordoma [ACR pathology]
- Chordoma [ORDO Disease]
- Chordoma [NCIt concept]
- Chordoma [ICD-9 code]
- Chordoma [MedDRA Preferred Term]
- Chordoma [HPO term]
- Chordoma (disorder) [SNOMED CT concept]
- Chordoma (morphologic abnormality) [SNOMED CT concept]
- Chordoma, NOS [ICD-O code]
- chordoma [DO Concept]
- chordoma [Disease (Nov.)]
- chordoma [MeSH concept]
- chordoma [SNOMED Notion]
- chordoma [MeSH Descriptor]
- chordoma [Radlex concept]
HPO term(s)
- Abnormality of the head [HPO term]
- Abnormality of the vertebral column [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chordoma [HPO term]
ORDO concept(s)
- Chordoma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Chordoma [MedDRA Preferred Term]
- Chordoma [ORDO Disease]
- Chordoma [NCIt concept]
- Chordoma [HPO term]
- Chordoma [PASCAL descriptor]
- Chordoma (morphologic abnormality) [SNOMED CT concept]
- Chordoma, NOS [ICD-O code]
- chordoma [SNOMED Notion]
- chordoma [MeSH Descriptor]
- chordoma [MeSH concept]
- chordoma [Radlex concept]
- chordoma [DO Concept]
- chordoma [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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