LP63613-1
Microdeletion syndromes
Active
Description
Microdeletions are missing pieces of DNA that are beyond the resolution of routine cytogenetic techniques. Specific microdeletions are diagnostic of several clinical syndromes. Examples are Cri-du-chat, DiGeorge/Velocardiofacial syndrome, Kallman syndrome, Miller-Dieker syndrome, Prader-Willi syndrome (PWS), Smith-Magenis syndrome, Steroid sulfatase deficiency (x-linked Ichthyosis), Williams syndrome, Wolf-Hirschhorn syndrome, and Y Chromosome microdeletions. Source: Regenstrief Institute
Basic Part Properties
- Part Display Name
- Microdeletion syndromes
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-05-01
- Construct for LOINC Short Name
- Microdeletion synd
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 微缺失综合征 Synonyms: 微缺失（微缺失、 |
| et-EE | Estonian (Estonia) | Mikrodeletsioonisündroomid |
| es-ES | Spanish (Spain) | Síndromes por microdeleción |
| it-IT | Italian (Italy) | Microdelezioni, sindromi Synonyms: Sindromi da microdelezioni |
| tr-TR | Turkish (Turkey) | Mikrodelesyon sendromları |
| ru-RU | Russian (Russian Federation) | Микроделеция синдромы Synonyms: Микроделеционные синдромы |
| nl-NL | Dutch (Netherlands) | microdeletie syndromen |
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