LP208596-9
Chromosome region 1p36
Active
Description
1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 1p36-deletion-syndrome] Source: Regenstrief LOINC , GHR: 1p36 deletion syndrome
Basic Part Properties
- Part Name
- Chromosome region 1p36
- Part Display Name
- Chromosome region 1p36
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-29
- Construct for LOINC Short Name
- Chr 1p36
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Regione cromosomica 1p36 |
| zh-CN | Chinese (China) | 染色体区域 1p36 Synonyms: 染色体区域（染色体部位、 |
| es-ES | Spanish (Spain) | Región cromosómica 1p36 |
| nl-NL | Dutch (Netherlands) | chromosoomgebied 1p36 |
| pl-PL | Polish (Poland) | Region chromosomowy 1p36 |
| el-GR | Greek (Greece) | Χρωμοσωμική περιοχή 1p36 Synonyms: Χρωμοσωμική περιοχή 1p36 |
LOINC Copyright
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