Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
trisomy 18
|
| gptkbp:causedBy |
extra chromosome 18
|
| gptkbp:chromosomeAffected |
gptkb:chromosome_18
|
| gptkbp:commonIn |
females
|
| gptkbp:diagnosedBy |
prenatal screening
karyotyping |
| gptkbp:firstDescribed |
gptkb:John_H._Edwards
1960 |
| gptkbp:hasPartialForm |
mosaic trisomy 18
partial trisomy 18 |
| https://www.w3.org/2000/01/rdf-schema#label |
Edwards syndrome
|
| gptkbp:ICD-10_code |
Q91.0-Q91.3
|
| gptkbp:inheritance |
not inherited
|
| gptkbp:medianSurvival |
few weeks to months
|
| gptkbp:MeSH_ID |
D004537
|
| gptkbp:OMIM |
192500
|
| gptkbp:percentageSurviving1Year |
less than 10%
|
| gptkbp:prevalence |
1 in 5,000 live births
|
| gptkbp:prognosis |
poor
|
| gptkbp:riskFactor |
advanced maternal age
|
| gptkbp:symptom |
congenital heart defects
intellectual disability low birth weight small head micrognathia kidney malformations clenched fists with overlapping fingers rocker-bottom feet |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:chromosome_18
|
| gptkbp:bfsLayer |
6
|