Penetrance - CISMeF

Preferred Label : Penetrance;

NCIt synonyms : Genetic Penetrance;

NCIt definition : The degree or probability to which a genotype is expressed as a phenotype.;

Alternative definition : NCI-GLOSS: A characteristic of a genotype; it refers to the likelihood that a clinical condition will occur when a particular genotype is present.;

Codes from synonyms : CDR0000339344;

Details

Origin ID

C48667;

UMLS CUI

C0524899;

Automatic exact mappings (from CISMeF team)
- Penetrating (qualifier value) [SNOMED CT concept]
- penetrant [IUPAC Term]
- penetrating [SNOMED Notion]
Currated CISMeF NLP mapping
- penetrance [MeSH Descriptor]
- penetrance [MeSH concept]
Semantic type(s)
- Quantitative Concept [UMLS semantic type]
UMLS correspondences (same concept)
- penetrance [MeSH concept]
- penetrance [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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