Complete Trisomy 13 Syndrome

Preferred Label : Complete Trisomy 13 Syndrome;

NCIt synonyms : Patau Syndrome;

NCIt definition : A syndrome characterized by the presence of three complete 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.;

Details

Origin ID

C101223;

UMLS CUI

C0152095;

Automatic exact mappings (from CISMeF team)
- Complete Trisomy 13 Syndrome [MeSH concept]
- patau syndrome [medical devices type]
- pätau syndrome [EMDN type]
Currated CISMeF NLP mapping
- Complete trisomy 13 [ICD-11 Subcategory]
- Complete trisomy 13 syndrome (disorder) [SNOMED CT concept]
- Duplications of chromosome 13 [ICD-11 Subcategory]
- Patau syndrome [PASCAL descriptor]
- Patau syndrome [DO Concept]
- Patau's syndrome [ICD-9 code]
- Patau's syndrome [MedDRA LLT]
- Pataus syndrome, unspecified [ICD-10 Sub-category (who)]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13 Syndrome [MeSH Descriptor]
- Trisomy 13 syndrome [ORDO Disease]
- Trisomy 13, unspecified [ICD-10 Sub-category]
- complete trisomy 13 syndrome [SNOMED Notion]
DO Cross reference
- Patau syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complete trisomy 13 syndrome (disorder) [SNOMED CT concept]
- Patau syndrome [DO Concept]
- Patau syndrome [Disease (Nov.)]
- Patau's syndrome [MedDRA LLT]
- Patau's syndrome [ICD-9 code]
- Pataus syndrome, unspecified [ICD-10 Sub-category (who)]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- Trisomy 13, unspecified [ICD-10 Sub-category]
- complete trisomy 13 syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_molecular_abnormality
- Trisomy 13 [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 13 [NCIt concept]

Keyword's position in hierarchy(ies) :

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