complete trisomy 13 syndrome

Preferred Label : complete trisomy 13 syndrome;

Details

Origin ID

D4-02134;

UMLS CUI

C0152095;

Automatic exact mappings (from CISMeF team)
- Holoprosencephaly-postaxial polydactyly syndrome [ORDO Disease]
- Pseudotrisomy 13 syndrome [MeSH concept]
- Trisomy 13 (morphologic abnormality) [SNOMED CT concept]
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 [PASCAL descriptor]
- Patau syndrome [DO Concept]
- Patau's syndrome [MedDRA LLT]
- Pataus syndrome, unspecified [ICD-10 Sub-category (who)]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13 [NCIt concept]
- Trisomy 13 [ORDO Disease]
- Trisomy 13 Syndrome [MeSH Descriptor]
- Trisomy 13, unspecified [ICD-10 Sub-category]
- chromosome 13 duplication [MeSH concept]
ICD-10 exact mapping(s)
- Pataus syndrome, unspecified [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with cataract [ORDO Disease]
- Congenital vitreoretinal dysplasia [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
- Syndromic diaphragmatic or abdominal wall malformation [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- Total autosomal trisomy [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Complete trisomy 13 syndrome (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complete Trisomy 13 Syndrome [NCIt concept]
- Complete trisomy 13 syndrome (disorder) [SNOMED CT concept]
- Patau syndrome [Disease (Nov.)]
- Patau syndrome [DO Concept]
- Patau's syndrome [MedDRA LLT]
- Patau's syndrome [ICD-9 code]
- Pataus syndrome, unspecified [ICD-10 Sub-category (who)]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [ACR pathology]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13, unspecified [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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