trisomy - CISMeF

Preferred Label : trisomy;

MeSH definition : The possession of a third chromosome of any one type in an otherwise diploid cell.;

MeSH synonym : trisomies; chromosomal triplication; chromosomal triplications;

MeSH hyponym : partial trisomy; Partial Trisomies; Trisomies, Partial; Trisomy, Partial;

MeSH annotation : coordinate IM with specific chromosome number (IM); TRISOMY 21 see DOWN SYNDROME is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Trisomy;

Details

Origin ID

D014314;

UMLS CUI

C0041107;

Allowable qualifiers
- diagnosis [MeSH Qualifier]
- genetics [MeSH Qualifier]
- immunology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Partial autosomal trisomy/tetrasomy [ORDO Disease]
- Partial trisomy [PASCAL descriptor]
- Partial trisomy [ICD-10 Sub-category]
- Partial trisomy (morphologic abnormality) [SNOMED CT concept]
- Trisomies [LOINC Class]
Currated CISMeF NLP mapping
- Autosomal trisomy [ORDO Disease]
- Trisomy [PASCAL descriptor]
- Trisomy [NCIt concept]
- Trisomy (morphologic abnormality) [SNOMED CT concept]
- trisomy [Disease (Nov.)]
- trisomy [SNOMED Notion]
Manual BTNT mappings - CISMeF
- Total autosomal trisomy [ORDO Disease]
ORDO relation(s)
- Trisomy X [ORDO Disease]
Record concept(s)
- partial trisomy [MeSH concept]
- trisomy [MeSH concept]
Related MeSH Supplementary Concept(s)
- 6q+ syndrome, partial [MeSH Supplementary Concept]
- X chromosome, duplication Xq13 1 q21 1 [MeSH Supplementary Concept]
- X chromosome, trisomy Xp3 [MeSH Supplementary Concept]
- X chromosome, trisomy Xq25 [MeSH Supplementary Concept]
- X chromosome, trisomy xpter Xq13 [MeSH Supplementary Concept]
- chromosome 1, duplication 1p21 p32 [MeSH Supplementary Concept]
- chromosome 1, q42 11 q42 12 duplication [MeSH Supplementary Concept]
- chromosome 1, trisomy 1q32 qter [MeSH Supplementary Concept]
- chromosome 1, trisomy 1q42 qter [MeSH Supplementary Concept]
- chromosome 1, uniparental disomy 1q12 q21 [MeSH Supplementary Concept]
- chromosome 10, trisomy 10p [MeSH Supplementary Concept]
- chromosome 10, trisomy 10pter p13 [MeSH Supplementary Concept]
- chromosome 10, uniparental disomy of [MeSH Supplementary Concept]
- chromosome 10q duplication syndrome [MeSH Supplementary Concept]
- chromosome 11, partial trisomy 11q [MeSH Supplementary Concept]
- chromosome 11q trisomy [MeSH Supplementary Concept]
- chromosome 12, 12p trisomy [MeSH Supplementary Concept]
- chromosome 12, trisomy 12q [MeSH Supplementary Concept]
- chromosome 13p duplication [MeSH Supplementary Concept]
- chromosome 13q trisomy [MeSH Supplementary Concept]
- chromosome 14 trisomy [MeSH Supplementary Concept]
- chromosome 14, trisomy mosaic [MeSH Supplementary Concept]
- chromosome 14q, proximal duplication [MeSH Supplementary Concept]
- chromosome 14q, terminal duplication [MeSH Supplementary Concept]
- chromosome 15, trisomy mosaicism [MeSH Supplementary Concept]
- chromosome 15q, trisomy [MeSH Supplementary Concept]
- chromosome 16, trisomy [MeSH Supplementary Concept]
- chromosome 16, trisomy 16q [MeSH Supplementary Concept]
- chromosome 17 trisomy [MeSH Supplementary Concept]
- chromosome 17, trisomy 17p [MeSH Supplementary Concept]
- chromosome 17, trisomy 17q22 [MeSH Supplementary Concept]
- chromosome 18, trisomy 18p [MeSH Supplementary Concept]
- chromosome 18, trisomy 18q [MeSH Supplementary Concept]
- chromosome 19, trisomy 19q [MeSH Supplementary Concept]
- chromosome 1q, duplication 1q12 q21 [MeSH Supplementary Concept]
- chromosome 2, trisomy 2p [MeSH Supplementary Concept]
- chromosome 2, trisomy 2p13 p21 [MeSH Supplementary Concept]
- chromosome 2, trisomy 2pter p24 [MeSH Supplementary Concept]
- chromosome 2, trisomy 2q [MeSH Supplementary Concept]
- chromosome 2, trisomy 2q37 [MeSH Supplementary Concept]
- chromosome 20, trisomy [MeSH Supplementary Concept]
- chromosome 21, uniparental disomy of [MeSH Supplementary Concept]
- chromosome 22, trisomy [MeSH Supplementary Concept]
- chromosome 22, trisomy q11 q13 [MeSH Supplementary Concept]
- chromosome 3 duplication syndrome [MeSH Supplementary Concept]
- chromosome 3, trisomy 3p [MeSH Supplementary Concept]
- chromosome 3, trisomy 3p25 [MeSH Supplementary Concept]
- chromosome 3, trisomy 3q [MeSH Supplementary Concept]
- chromosome 3, trisomy 3q13 2 q25 [MeSH Supplementary Concept]
- chromosome 4, partial trisomy distal 4q [MeSH Supplementary Concept]
- chromosome 4, trisomy 4q [MeSH Supplementary Concept]
- chromosome 4, trisomy 4q21 [MeSH Supplementary Concept]
- chromosome 4, trisomy 4q25 qter [MeSH Supplementary Concept]
- chromosome 5, monosomy 5q35 [MeSH Supplementary Concept]
- chromosome 5, trisomy 5pter p13 3 [MeSH Supplementary Concept]
- chromosome 5, trisomy 5q [MeSH Supplementary Concept]
- chromosome 5, uniparental disomy [MeSH Supplementary Concept]
- chromosome 6, trisomy 6p [MeSH Supplementary Concept]
- chromosome 6, trisomy 6q [MeSH Supplementary Concept]
- chromosome 7, trisomy 7p [MeSH Supplementary Concept]
- chromosome 7, trisomy 7p13 p12 2 [MeSH Supplementary Concept]
- chromosome 7, trisomy 7q [MeSH Supplementary Concept]
- chromosome 7, trisomy mosaic [MeSH Supplementary Concept]
- chromosome 8, mosaic trisomy [MeSH Supplementary Concept]
- chromosome 8, partial trisomy [MeSH Supplementary Concept]
- chromosome 8, trisomy [MeSH Supplementary Concept]
- chromosome 8, trisomy 8p [MeSH Supplementary Concept]
- chromosome 8, trisomy 8q [MeSH Supplementary Concept]
- chromosome 9, partial trisomy 9p [MeSH Supplementary Concept]
- chromosome 9, trisomy [MeSH Supplementary Concept]
- chromosome 9, trisomy 9p [MeSH Supplementary Concept]
- chromosome 9, trisomy 9q [MeSH Supplementary Concept]
- chromosome 9, trisomy 9q32 [MeSH Supplementary Concept]
- chromosome 9, trisomy mosaic [MeSH Supplementary Concept]
- chromosome xq duplication syndrome [MeSH Supplementary Concept]
- distal trisomy 10q syndrome [MeSH Supplementary Concept]
- duplication 4p syndrome [MeSH Supplementary Concept]
- partial duplication 15q syndrome [MeSH Supplementary Concept]
- partial trisomy 3q syndrome [MeSH Supplementary Concept]
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]
- triple X syndrome [MeSH Supplementary Concept]
- trisomy 18-Like syndrome [MeSH Supplementary Concept]
- trisomy 20p [MeSH Supplementary Concept]
- trisomy 22 mosaicism syndrome [MeSH Supplementary Concept]
- warburton anyane yeboa syndrome [MeSH Supplementary Concept]
See also
- triploidy [MeSH Descriptor]
See also (suggested by CISMeF)
- down syndrome [MeSH Descriptor]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
Validated automatic mappings to BTNT
- partial trisomy [Disease (Nov.)]

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