Triploidy Syndrome

Preferred Label : Triploidy Syndrome;

NCIt synonyms : Triploid Syndrome;

NCIt definition : A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects.;

Details

Origin ID

C85204;

UMLS CUI

C0333693;

Currated CISMeF NLP mapping
- Triploidy [ORDO Disease]
- Triploidy (morphologic abnormality) [SNOMED CT concept]
- Triploidy syndrome (disorder) [SNOMED CT concept]
- triploidy [MeSH concept]
- triploidy [MeSH Descriptor]
- triploidy [SNOMED Notion]
- triploidy syndrome [SNOMED Notion]
See also inter- (CISMeF)
- Triploidy [ICD-11 Subcategory]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Triploidy [ORDO Disease]
- Triploidy (morphologic abnormality) [SNOMED CT concept]
- Triploidy syndrome (disorder) [SNOMED CT concept]
- triploidy [MeSH concept]
- triploidy [MeSH Descriptor]
- triploidy [SNOMED Notion]
- triploidy syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- Triploidy [NCIt concept]

Keyword's position in hierarchy(ies) :

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