Trisomy 13 Syndrome

Preferred Label : Trisomy 13 Syndrome;

MeSH definition : A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.;

MeSH synonym : Patau's Syndrome; Pataus Syndrome; Bartholin-Patau Syndrome; Bartholin Patau Syndrome; Chromosome 13 Trisomy Syndrome; Trisomy 13 Syndromes; Patau Syndrome;

DeCS synonym : Chromosome 13 Duplication; Complete Trisomy 13 Syndrome; Mosaic Trisomy 13 Syndrome;

MeSH hyponym : Chromosome 13 Duplications; Duplication, Chromosome 13; Trisomy 13;

Wikipedia link : https://en.wikipedia.org/wiki/Trisomy 13 syndrome;

Details

Origin ID

D000073839;

UMLS CUI

C4319808;

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)
- Partial trisomy of chromosome 13 (disorder) [SNOMED CT concept]
- Trisomy 13 (morphologic abnormality) [SNOMED CT concept]
- patau syndrome [medical devices type]
- pätau syndrome [EMDN type]
Currated CISMeF NLP mapping
- Complete Trisomy 13 Syndrome [NCIt concept]
- Complete trisomy 13 [ICD-11 Subcategory]
- Complete trisomy 13 syndrome (disorder) [SNOMED CT concept]
- Duplications of chromosome 13 [ICD-11 Subcategory]
- Patau syndrome [DO Concept]
- Patau syndrome [PASCAL descriptor]
- Patau's syndrome [MedDRA LLT]
- Patau's syndrome [ICD-9 code]
- Trisomy 13 [ORDO Disease]
- Trisomy 13 [NCIt concept]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- complete trisomy 13 syndrome [SNOMED Notion]
DO Cross reference
- Patau syndrome [DO Concept]
Record concept(s)
- Complete Trisomy 13 Syndrome [MeSH concept]
- Mosaic Trisomy 13 Syndrome [MeSH concept]
- Trisomy 13 Syndrome [MeSH concept]
- chromosome 13 duplication [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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