Trisomy 18 Syndrome

Preferred Label : Trisomy 18 Syndrome;

MeSH definition : A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.;

MeSH synonym : Trisomy 18 Syndromes;

CISMeF synonym : Trisomy E Syndrome;

DeCS synonym : Mosaic Trisomy 18 Syndrome; Trisomy 18; Complete Trisomy 18 Syndrome;

MeSH hyponym : Edwards Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Edwards syndrome;

Details

Origin ID

D000073842;

UMLS CUI

C4317091;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Complete Trisomy 18 Syndrome [NCIt concept]
- Complete trisomy 18 [ICD-11 Subcategory]
- Complete trisomy 18 syndrome (disorder) [SNOMED CT concept]
- Edward's syndrome [MedDRA LLT]
- Edwards syndrome [DO Concept]
- Edwards syndrome [PASCAL descriptor]
- Edwards' syndrome [MedDRA LLT]
- Edwards' syndrome [ICD-9 code]
- Oro-facial digital syndrome type 8 (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome VIII [OMIM Phenotype]
- Trisomy 18 [ORDO Disease]
- Trisomy 18 [MedDRA Preferred Term]
- complete trisomy 18 syndrome [SNOMED Notion]
- edwards syndrome [EMDN type]
- edwards syndrome [medical devices type]
- orofaciodigital syndrome VIII [DO Concept]
- trisomy 18 [Radlex concept]
DO Cross reference
- Edwards syndrome [DO Concept]
Record concept(s)
- Complete Trisomy 18 Syndrome [MeSH concept]
- Mosaic Trisomy 18 Syndrome [MeSH concept]
- Trisomy 18 Syndrome [MeSH concept]
- Trisomy E Syndrome [MeSH concept]
- trisomy 18 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trisomy 18 [MedDRA Preferred Term]

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