At the specified date, a patient is defined as having had Down's syndrome IF they meet the criteria for any of the following on or before the specified date. The earliest date on which the individual meets any of the following criteria on or before the specified date is defined as the first event date:
Primary care
OR Secondary care (ICD10)
Kuan V., Denaxas S., Gonzalez-Izquierdo A. et al. A chronological map of 308 physical and mental health conditions from 4 million individuals in the National Health Service. The Lancet Digital Health - DOI 10.1016/S2589-7500(19)30012-3
Code | Description | Disease | Medcode | Category |
---|---|---|---|---|
PJ0..00 | Down's syndrome - trisomy 21 | Down's syndrome | 1543.0 | Diagnosis of Down's syndrome |
PJ0..11 | Mongolism | Down's syndrome | 23489.0 | Diagnosis of Down's syndrome |
PJ0..12 | Trisomy 21 | Down's syndrome | 18415.0 | Diagnosis of Down's syndrome |
PJ00.00 | Trisomy 21, meiotic nondisjunction | Down's syndrome | 42701.0 | Diagnosis of Down's syndrome |
PJ01.00 | Trisomy 21, mosaicism | Down's syndrome | 32010.0 | Diagnosis of Down's syndrome |
PJ01.11 | Trisomy 21, mitotic nondisjunction | Down's syndrome | 107919.0 | Diagnosis of Down's syndrome |
PJ02.00 | Trisomy 21, translocation | Down's syndrome | 61499.0 | Diagnosis of Down's syndrome |
PJ02.11 | Partial trisomy 21 in Down's syndrome | Down's syndrome | 101309.0 | Diagnosis of Down's syndrome |
PJ0z.00 | Down's syndrome NOS | Down's syndrome | 10759.0 | Diagnosis of Down's syndrome |
PJ0z.11 | Trisomy 21 NOS | Down's syndrome | 61627.0 | Diagnosis of Down's syndrome |
Code | Description | Disease | ReadcodeDescr | Readcode |
---|---|---|---|---|
101309.0 | Diagnosis of Down's syndrome | Down's syndrome | Partial trisomy 21 in Down's syndrome | PJ02.11 |
10759.0 | Diagnosis of Down's syndrome | Down's syndrome | Down's syndrome NOS | PJ0z.00 |
107919.0 | Diagnosis of Down's syndrome | Down's syndrome | Trisomy 21, mitotic nondisjunction | PJ01.11 |
1543.0 | Diagnosis of Down's syndrome | Down's syndrome | Down's syndrome - trisomy 21 | PJ0..00 |
18415.0 | Diagnosis of Down's syndrome | Down's syndrome | Trisomy 21 | PJ0..12 |
23489.0 | Diagnosis of Down's syndrome | Down's syndrome | Mongolism | PJ0..11 |
32010.0 | Diagnosis of Down's syndrome | Down's syndrome | Trisomy 21, mosaicism | PJ01.00 |
42701.0 | Diagnosis of Down's syndrome | Down's syndrome | Trisomy 21, meiotic nondisjunction | PJ00.00 |
61499.0 | Diagnosis of Down's syndrome | Down's syndrome | Trisomy 21, translocation | PJ02.00 |
61627.0 | Diagnosis of Down's syndrome | Down's syndrome | Trisomy 21 NOS | PJ0z.11 |
Code | Description | Disease | Category |
---|---|---|---|
Q90 | Down's syndrome | Down's syndrome | Diagnosis of Down's syndrome |
To Export Phenotype Details:
Format | API |
---|---|
XML | site_root/api/v1/public/phenotypes/PH156/version/312/detail/?format=xml |
JSON | site_root/api/v1/public/phenotypes/PH156/version/312/detail/?format=json |
R Package |
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To Export Phenotype Code List:
Format | API |
---|---|
XML | site_root/api/v1/public/phenotypes/PH156/version/312/export/codes/?format=xml |
JSON | site_root/api/v1/public/phenotypes/PH156/version/312/export/codes/?format=json |
CSV | site_root/phenotypes/PH156/version/312/export/codes/ |
R Package |
|
Version ID |
Name | Owner | Publish date | |
---|---|---|---|---|
312 | Down's syndrome | ieuan.scanlon | 2021-10-06 | currently shown |
Export - export all codes into a csv file/JSON/XML for the current phenotype version.
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