Freeman-Sheldon syndrome

Preferred Label : Freeman-Sheldon syndrome;

MeSH note : Da2a not included;

MeSH synonym : craniocarpotarsal dystrophy; craniocarpotarsal dysplasia; arthrogryposis, distal, type 2a; whistling face syndrome; distal arthrogryposis, type 2A; whistling Face-Windmill vane hand syndrome;

Détails

Origin ID

C535483;

UMLS CUI

C0265224;

Automatic exact mappings (from CISMeF team)
- Freeman-Sheldon syndrome [DO Concept]
- Portion of synovial fluid [FMA entity]
- Synovial fluid [LOINC System]
- Whistling appearance [HPO term]
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 2A [DO Concept]
- synovial fluid [SNOMED Notion]
Currated CISMeF NLP mapping
- Arthrogryposis, distal, type 2a [OMIM Phenotype]
- Freeman-Sheldon Syndrome [NCIt concept]
- Freeman-Sheldon syndrome [MedDRA Preferred Term]
- Freeman-Sheldon syndrome [ICD-11 More detail]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome (disorder) [SNOMED CT concept]
- freeman-sheldon syndrome [SNOMED Notion]
DO Cross reference
- Freeman-Sheldon syndrome [DO Concept]
MeSH term(s) associated for indexing
- craniofacial dysostosis [MeSH Descriptor]
ORDO relation(s)
- Freeman-Sheldon syndrome [ORDO Disease]
Record concept(s)
- Freeman-Sheldon syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, type 2a [OMIM Phenotype]
- Freeman-Sheldon Syndrome [NCIt concept]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome [MedDRA Preferred Term]
- Freeman-Sheldon syndrome [ICD-11 More detail]
- Freeman-Sheldon syndrome [DO Concept]
- Freeman-Sheldon syndrome (disorder) [SNOMED CT concept]
- freeman-sheldon syndrome [SNOMED Notion]

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