Monosomy 21 - CISMeF

Preferred Label : Monosomy 21;

NCIt definition : A chromosomal abnormality characterized by the absence of one of the copies of chromosome 21.;

Details

Origin ID

C36469;

UMLS CUI

C0795875;

Currated CISMeF NLP mapping
- 21q deletion [ICD-11 More detail]
- 21q deletion syndrome [ORDO Disease]
- Chromosome 21 monosomy [MeSH concept]
- Complete monosomy 21 syndrome (disorder) [SNOMED CT concept]
- chromosome 21 monosomy [MeSH Supplementary Concept]
- complete monosomy 21 syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 21q deletion syndrome [ORDO Disease]
- Chromosome 21 monosomy [MeSH concept]
- chromosome 21 monosomy [MeSH Supplementary Concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 21 [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Adult Astroblastoma, MN1-Altered [NCIt concept]
- Anaplastic Astroblastoma, MN1-Altered [NCIt concept]
- Astroblastoma, MN1-Altered [NCIt concept]
- Childhood Astroblastoma, MN1-Altered [NCIt concept]

Keyword's position in hierarchy(ies) :

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