Carney-Stratakis Syndrome

Preferred Label : Carney-Stratakis Syndrome;

NCIt related terms : Carney dyad; Carney-Stratakis dyad;

NCIt definition : A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas.;

Alternative definition : NCI-GLOSS: A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso.;

Codes from synonyms : CDR0000648580; CDR0000648578; CDR0000648579;

Details

Origin ID

C94831;

UMLS CUI

C1847319;

Automatic exact mappings (from CISMeF team)
- Carney Stratakis syndrome [ICD-11 More detail]
- Carney-Stratakis syndrome [DO Concept]
Currated CISMeF NLP mapping
- Carney Stratakis syndrome [Disease (Nov.)]
- Carney-Stratakis syndrome [MeSH concept]
- Carney-Stratakis syndrome [MeSH Supplementary Concept]
- Carney-Stratakis syndrome [ORDO Disease]
- Paraganglioma and gastric stromal sarcoma [OMIM Phenotype]
- Paraganglioma and gastric stromal sarcoma syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carney Stratakis syndrome [Disease (Nov.)]
- Carney-Stratakis syndrome [MeSH Supplementary Concept]
- Carney-Stratakis syndrome [MeSH concept]
- Carney-Stratakis syndrome [ORDO Disease]
- Paraganglioma and gastric stromal sarcoma [OMIM Phenotype]
- Paraganglioma and gastric stromal sarcoma syndrome (disorder) [SNOMED CT concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- SDH Complex Gene Mutation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients