pseudotrisomy 13 syndrome

Preferred Label : pseudotrisomy 13 syndrome;

MeSH synonym : pseudo trisomy 13 syndrome; holoprosencephaly polydactyly syndrome; Holoprosencephaly-Polydactyly syndrome;

Details

Origin ID

C535829;

UMLS CUI

C1849649;

Currated CISMeF NLP mapping
- Holoprosencephaly and postaxial polydactyly syndrome (disorder) [SNOMED CT concept]
- Holoprosencephaly-postaxial polydactyly syndrome [ORDO Disease]
- Pseudotrisomy 13 Syndrome [NCIt concept]
- Pseudotrisomy 13 syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- chromosomes, human, pair 13 [MeSH Descriptor]
- fetal macrosomia [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- holoprosencephaly [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
- trisomy [MeSH Descriptor]
Ne pas confondre avec
- Trisomy 13 [ORDO Disease]
Record concept(s)
- Pseudotrisomy 13 syndrome [MeSH concept]
See also inter- (CISMeF)
- Complete trisomy 13 syndrome (disorder) [SNOMED CT concept]
- Trisomy 13 [ORDO Disease]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13 [NCIt concept]
- complete trisomy 13 syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly and postaxial polydactyly syndrome (disorder) [SNOMED CT concept]
- Holoprosencephaly-postaxial polydactyly syndrome [ORDO Disease]
- Pseudotrisomy 13 Syndrome [NCIt concept]
- Pseudotrisomy 13 syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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