Terminology Service for NFDI4Health
Down syndrome
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http://www.ebi.ac.uk/efo/EFO_0001064
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 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. [ ]
Term info
Label
Down syndrome
Synonyms
- Complete trisomy 21 syndrome
- Complete trisomy 21 syndrome (disorder)
- DOWN'S SYNDROME
- Down Syndrome, Partial Trisomy 21
- Down syndrome
- Down syndrome, Isolated cases
- Down's syndrome
- Down's syndrome - trisomy 21
- Down's syndrome NOS
- Down's syndrome NOS (disorder)
- Downs Syndrome
- Downs syndrome
- G Trisomy
- G trisomy
- Mongolism
- Partial Trisomy 21 Down Syndrome
- Syndrome, Down
- Syndrome, Down's
- T21 - Trisomy 21
- Trisomy 21
- Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome
- Trisomy 21 NOS
- Trisomy 21, Meiotic Nondisjunction
- Trisomy 21, Mitotic Nondisjunction
- leukemia, megakaryoblastic, with or without Down syndrome, somatic
- trisomy 21 (Down syndrome)
- trisomy 21 syndrome
Subsets
ordo_malformation_syndrome
broadMatch
https://icd.codes/icd10cm/Q90.2, https://icd.codes/icd10cm/Q90.0, https://icd.codes/icd10cm/Q90.1, https://icd.codes/icd10cm/Q90.9
closeMatch
http://identifiers.org/meddra/10044688
comment
May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future
exactMatch
http://identifiers.org/mesh/D004314, http://linkedlifedata.com/resource/umls/id/C0013080, https://omim.org/entry/190685, http://purl.obolibrary.org/obo/Orphanet_870, http://purl.obolibrary.org/obo/DOID_14250, http://purl.obolibrary.org/obo/NCIT_C2993, http://identifiers.org/snomedct/41040004
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0019040, http://purl.obolibrary.org/obo/MONDO_0015159, http://purl.obolibrary.org/obo/MONDO_0015506, http://purl.obolibrary.org/obo/MONDO_0002254, http://purl.obolibrary.org/obo/MONDO_0018792, http://purl.obolibrary.org/obo/MONDO_0015652, http://purl.obolibrary.org/obo/MONDO_0003847, http://purl.obolibrary.org/obo/MONDO_0000508
has narrow synonym
complete trisomy 21 syndrome, trisomy 21, trisomy 21 syndrome
has related synonym
leukemia, megakaryoblastic, of Down syndrome, transient myeloproliferative disorder of Down syndrome, Down syndrome chromosome region, Down syndrome critical region
id
EFO:0001064
see also
https://github.com/monarch-initiative/mondo/issues/4521
term editor
Tomasz Adamusiak, James Malone