LP212118-6
F8 gene intron 1 & 22 inversion
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Description
The intron 1 and 22 inversion mutations in the F8 gene account for approximately 50% of mutations associated with severe hemophilia A (HA) cases in males. PMID: 18284600 These inversions are typically not identified in patients with mild or moderate HA. When the inversion mutation is identified in a family, at-risk females may be tested to determine their hemophilia A carrier status. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- F8 gene intron 1 & 22 inversion
- Part Display Name
- F8 gene intron 1 and 22 inversion
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-04-25
- Construct for LOINC Short Name
- F8 intron 1+22 Inv
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP212118-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | F8 introne 1 & inversione 22, gene Synonyms: Gene F8 introne 1 e inversione 22 |
| zh-CN | Chinese (China) | F8 基因内含子 1 与 22 倒位 Synonyms: 凝血因子 VIII; |
| es-ES | Spanish (Spain) | Inversión del intrón 1 y 22 del gen F8 |
| nl-NL | Dutch (Netherlands) | F8-gen intron 1 & 22 inversie Synonyms: f8 gen intron 1 & 22 inversie |
| el-GR | Greek (Greece) | Αντιστροφή ιντρονίου 1 & 22 γονιδίου F8 Synonyms: Αντιστροφή ιντρονίου 1 & 22 γονιδίου F8 |
LOINC Copyright
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