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Advice for coding Trisomy 21 disorders

Guidance for GPs on the coding of people with Down’s Syndrome and how this differs from coding of screening/diagnostic tests which have indicated that a woman’s unborn child has Down’s Syndrome.

4 March 2021

The following active codes should be used only on a person’s record where that person has Down’s Syndrome:

205615000 Trisomy 21- meiotic nondisjunction (disorder)
254264002 Partial trisomy 21 in Down syndrome (disorder)
205616004 Trisomy 21- mitotic nondisjunction mosaicism (disorder)
41040004 Complete trisomy 21 syndrome (disorder)
371045000 Translocation Down syndrome (disorder)
709469005 Periodontitis co-occurrent with Down syndrome (disorder)
724643004 Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder)
724644005 Myeloid leukemia co-occurrent with Down syndrome (disorder)
733194007 Dementia co-occurrent and due to Down syndrome (disorder)
840505007 Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder)


The following inactive codes may have been used historically and should only be present on a person’s record where that person has Down’s Syndrome:

157019002 Down's syndrome (disorder)
254263008 Down's syndrome NOS (disorder)
702711000000103 Down's syndrome NOS (disorder)
205618003 Down's syndrome NOS (disorder)
205614001 (Down's syndrome - trisomy 21) or (mongolism) or (trisomy 21) or (trisomy 22) (disorder)
205617008 Partial trisomy 21 in Down's syndrome (disorder)

There are some instances where the codes in the two tables above are being used when a woman’s unborn child is diagnosed with Down’s Syndrome which is incorrectly identifying these people as having Down’s Syndrome. This impacts on the COVID19 Shielded Patient List, QOF, and could impact other datasets which include people with Down’s Syndrome or learning disabilities.


In the scenario of an unborn child being diagnosed with Down’s Syndrome, the following relevant specific code below could be used in the mother’s record:

125501000119105 Fetus with complete trisomy 21 syndrome (disorder)
168118008 Trisomy 21 in amniotic fetal cell (finding)


The codes below could also potentially be used if deemed clinically appropriate, for screening results for example:

310580002 Down's screening blood test abnormal (finding)
259668008 Biochemical Down's screening marker (substance)
94821000119104 First trimester Down screening blood test abnormal (finding)
1079101000000101 Antenatal screening shows higher risk of Down syndrome (finding)
998681000000109 Downs screening test (observable entity) [with an associated value]
130081000119101 Multiple marker screening test positive for Down syndrome (finding)


The code below is used to add a person to the Shielded Patient List.

1300561000000107 High risk category for developing complication from COVID-19 infection (finding)


The codes below are used to remove a person from the Shielded Patient List.

1300571000000100 Moderate risk category for developing complication from COVID-19 infection (finding)
1300591000000101 Low risk category for developing complication from COVID-19 infection (finding)


For any further queries please contact your clinical commissioning group.

Last edited: 4 March 2021 4:25 pm