Genetic Disorder

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.;

Details

Origin ID

C3101;

UMLS CUI

C0019247;

DO Cross reference
- genetic disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Genetic disease (disorder) [SNOMED CT concept]
- Genetic diseases [LOINC component]
- Genetic syndrome (disorder) [Inactive SNOMED CT concept]
- Genetic.Disorders [LOINC component]
- Hereditary disease (disorder) [SNOMED CT concept]
- Hereditary disorder [MedDRA Preferred Term]
- Hereditary disorder NOS [MedDRA LLT]
- genetic disease [DO Concept]
- genetic disorders [MedlinePlus Topic]
- hereditary disease, nos [SNOMED Notion]
- hereditary diseases [MeSH concept]
Validated automatic mappings to BTNT
- inborn genetic disorder [Disease (Nov.)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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