perry syndrome

Preferred Label : perry syndrome;

MeSH note : mutation in DCTN1;

MeSH synonym : parkinsonism with alveolar hypoventilation and mental depression;

Details

Origin ID

C566822;

UMLS CUI

C1868594;

Automatic exact mappings (from CISMeF team)
- Perry syndrome [ICD-11 More detail]
- Perry syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Perry syndrome [DO Concept]
- Perry syndrome [Disease (Nov.)]
- Perry syndrome [OMIM Phenotype]
- Perry syndrome [ORDO Disease]
- Perry syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Perry syndrome [DO Concept]
MeSH term(s) associated for indexing
- TDP-43 proteinopathies [MeSH Descriptor]
- depression [MeSH Descriptor]
- hypoventilation [MeSH Descriptor]
- parkinsonian disorders [MeSH Descriptor]
Record concept(s)
- perry syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Perry syndrome [OMIM Phenotype]
- Perry syndrome [ORDO Disease]
- Perry syndrome [DO Concept]
- Perry syndrome [Disease (Nov.)]
- Perry syndrome [MedDRA Preferred Term]
- Perry syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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