Preferred Label : Genetic Disorder;
NCIt synonyms : Molecular Disease; Genetic Condition; Inherited Disease; Hereditary Diseases;
NCIt related terms : Hereditary Disease; Genetic Syndrome;
NCIt definition : Genetic diseases are diseases in which inherited genes predispose to increased risk.
The genetic disorders associated with cancer often result from an alteration or mutation
in a single gene. The diseases range from rare dominant cancer family syndrome to
familial tendencies in which low-penetrance genes may interact with other genes or
environmental factors to induce cancer. Research may involve clinical, epidemiologic,
and laboratory studies of persons, families, and populations at high risk of these
disorders.;
Origin ID : C3101;
UMLS CUI : C0019247;
DO Cross reference
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
concept_is_in_subset
https://www.filiere-g2m.fr/documentation/publication/187:protocole-d-urgence-coma-et-maladies-hereditaires-du-metabolisme
2023
France
algorithms
metabolism, inborn errors
hereditary diseases
On Study
coma
emergencies
Genetic Disorder
Emergency Room
coma, nos
metabolic diseases
Emergency
coma
hereditary disease, nos
Coma
metabolic disease, nos
Urgency
Clinical Study Protocol
Metabolic Disorder
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https://dumas.ccsd.cnrs.fr/dumas-04142148
2023
France
dissertations, academic
hereditary diseases
cardiomyopathies
hereditary disease, nos
metabolic disease, nos
dilated cardiomyopathy secondary to metabolic disorder
Metabolic Disorder
metabolic diseases
Genetic Disorder
Cardiomyopathy
metabolism, inborn errors
---