Trisomy 13 - CISMeF

Preferred Label : Trisomy 13;

NCIt related terms : Trisomy-13;

NCIt definition : A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.;

Alternative definition : ACC/AHA: A chromosomal abnormality consisting of the presence of part or all of a third copy of chromosome 13 in somatic cells.;

Details

Origin ID

C36529;

UMLS CUI

C2936830;

Automatic exact mappings (from CISMeF team)
- Trisomy 13 (morphologic abnormality) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Complete trisomy 13 [ICD-11 Subcategory]
- Duplications of chromosome 13 [ICD-11 Subcategory]
- Patau syndrome [PASCAL descriptor]
- Patau syndrome [DO Concept]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13 [ORDO Disease]
- Trisomy 13 Syndrome [MeSH Descriptor]
- chromosome 13 duplication [MeSH concept]
- complete trisomy 13 syndrome [SNOMED Notion]
See also inter- (CISMeF)
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Trisomy 13 (morphologic abnormality) [SNOMED CT concept]
- chromosome 13 duplication [MeSH concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 13 [NCIt concept]
is_molecular_abnormality_of_disease
- Complete Trisomy 13 Syndrome [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Acute Myeloid Leukemia with Minimal Differentiation [NCIt concept]
- Adult Acute Myeloid Leukemia with Minimal Differentiation [NCIt concept]
- Childhood Acute Myeloid Leukemia with Minimal Differentiation [NCIt concept]

Keyword's position in hierarchy(ies) :

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