OMOP Concept 4133514
Genetic finding detected
StandardMeasurementSNOMED412731001Clinical Finding
Maps from
1
Descendants
24
Valid from
31 Jul 2004
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Genetic finding detected via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 412731001 | Positive genetic finding | Non-standard |
Synonyms
Alternative names recorded for Genetic finding detected across source vocabularies.
- Genetic finding detected (finding)
- hallazgo genético detectado
- hallazgo genético detectado (hallazgo)
- hallazgo genético positivo
- Positive genetic finding
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(4)Roll up to these when you need a wider cohort.
Narrower concepts
(24)Included automatically when you query with descendants.
- 1Breast cancer genetic marker of susceptibility detected
- 1Endometrial cancer genetic marker of susceptibility positive
- 1FBN1 gene mutation positive
- 1Fox gene positive
- 1Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation
- 1Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation
- 1Hereditary alpha-tryptasemia trait detected
- 1Hereditary non-polyposis colon cancer gene mutation detected
- 1Heterozygous NFKBIA gene mutation detected
- 1Heterozygous protocadherin 19 gene mutation detected
- 1HLA-A*31:01 detected
- 1HLA-B*15:02 detected
- 1HLA-B*57:01 detected
- 1HLA-B*58:01 positive
- 1Human epidermal growth factor receptor 2 gene amplification detected
- 1Human epidermal growth factor receptor 2 gene positive
- 1Human leukocyte antigen B*15:11 detected
- 1Human leukocyte antigen B5701 detected
- 1Human leukocyte antigen DQB1*02:02 positive
- 1Mitochondrial 1555 A to G mutation detected
- 1Ovarian cancer genetic marker of susceptibility positive
- 1Tumor protein p53 detected
- 2BRCA1 gene mutation detected
- 2BRCA2 gene mutation detected
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