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Down Syndrome (MONDO:0008608)

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Overview

PH156 Down's syndrome

Clinical-Coded Phenotype

Disease or syndrome

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Last updated 2021-10-06 Kuan V, Denaxas S, Gonzalez-Izquierdo A, …

PH2500 Down’s syndrome codes

OpenCodelists Phenotype

Last updated 2026-01-26 NHSD Primary Care Domain Refsets

PH3411 Down syndrome

OpenCodelists Phenotype

Last updated 2026-01-26 OpenSAFELY

Results

PH156 Down's syndrome

PH2500 Down’s syndrome codes

PH3411 Down syndrome

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