piussan lenaerts mathieu syndrome

Preferred Label : piussan lenaerts mathieu syndrome;

MeSH synonym : thumb ankylosis with mental retardation;

Origin ID

C537511;

UMLS CUI

C2931515;

Automatic exact mappings (from CISMeF team)
- Thumbs, stiff, with brachydactyly type a1 and developmental delay [OMIM Phenotype]
Currated CISMeF NLP mapping
- Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Thumb stiffness-brachydactyly-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- ankylosis [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- thumb [MeSH Descriptor]
ORDO relation(s)
- Thumb stiffness-brachydactyly-intellectual disability syndrome [ORDO Disease]
Record concept(s)
- Piussan Lenaerts Mathieu syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Thumb stiffness-brachydactyly-intellectual disability syndrome [ORDO Disease]