Complete Trisomy 18 Syndrome

Preferred Label : Complete Trisomy 18 Syndrome;

NCIt related terms : Trisomy 18; Edwards Syndrome;

NCIt definition : A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year.;

Alternative definition : NICHD: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.;

Details

Origin ID

C101362;

UMLS CUI

C0152096;

Automatic exact mappings (from CISMeF team)
- Complete Trisomy 18 Syndrome [MeSH concept]
- Orofaciodigital syndrome VIII [OMIM Phenotype]
- Trisomy 18 (morphologic abnormality) [SNOMED CT concept]
- Trisomy 18 Syndrome [MeSH Descriptor]
- edwards syndrome [EMDN type]
- orofaciodigital syndrome VIII [DO Concept]
Currated CISMeF NLP mapping
- Complete trisomy 18 [ICD-11 Subcategory]
- Complete trisomy 18 syndrome (disorder) [SNOMED CT concept]
- Edward's syndrome [MedDRA LLT]
- Edwards syndrome [PASCAL descriptor]
- Edwards syndrome [DO Concept]
- Edwards syndrome [Disease (Nov.)]
- Edwards' syndrome [MedDRA LLT]
- Edwards' syndrome [ICD-9 code]
- Trisomy 18 [ORDO Disease]
- Trisomy 18 [MedDRA Preferred Term]
- complete trisomy 18 syndrome [SNOMED Notion]
- trisomy 18 [Radlex concept]
- trisomy 18 [MeSH concept]
DO Cross reference
- Edwards syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complete trisomy 18 syndrome (disorder) [SNOMED CT concept]
- Edward's syndrome [MedDRA LLT]
- Edwards syndrome [DO Concept]
- Edwards' syndrome [MedDRA LLT]
- Edwards' syndrome [ICD-9 code]
- Trisomy 18 [ORDO Disease]
- complete trisomy 18 syndrome [SNOMED Notion]
- trisomy 18 [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_molecular_abnormality
- Trisomy 18 [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 18 [NCIt concept]

Keyword's position in hierarchy(ies) :

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