Pseudotrisomy 13 Syndrome

Preferred Label : Pseudotrisomy 13 Syndrome;

NCIt synonyms : Holoprosencephaly-Polydactyly Syndrome;

NCIt definition : A rare syndrome likely inherited in an autosomal recessive pattern. It is characterized by holoprosencephaly, polydactyly, phenotypic features reminiscent of trisomy 13, and normal karyotype.;

Details

Origin ID

C125418;

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 [OMIM Phenotype]
- Pseudotrisomy 13 syndrome [MeSH concept]
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]
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 [OMIM Phenotype]
- Pseudotrisomy 13 syndrome [MeSH concept]
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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