Freeman-Sheldon syndrome

Preferred Label : Freeman-Sheldon syndrome;

ICD-11 definition : Freeman-Sheldon syndrome is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is observed in this condition, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but most do, typically manifested by camptodactyly with ulnar deviation of the hand and talipes equinovarus.;

ICD-11 synonym : Whistling face syndrome; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Craniocarpotarsal dystrophy;

Details

Origin ID

1314169421;

UMLS CUI

C0265224;

Automatic exact mappings (from CISMeF team)
- Freeman-Sheldon syndrome [DO Concept]
- distal arthrogryposis type 2A [DO Concept]
Currated CISMeF NLP mapping
- Arthrogryposis, distal, type 2a [OMIM Phenotype]
- Freeman-Sheldon Syndrome [NCIt concept]
- Freeman-Sheldon syndrome [MeSH Supplementary Concept]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome [MedDRA Preferred Term]
- Freeman-Sheldon syndrome [MeSH concept]
- Freeman-Sheldon syndrome (disorder) [SNOMED CT concept]
- freeman-sheldon syndrome [SNOMED Notion]
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 [MedDRA Preferred Term]
- Freeman-Sheldon syndrome [MeSH concept]
- Freeman-Sheldon syndrome [MeSH Supplementary Concept]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome [DO Concept]
- Freeman-Sheldon syndrome (disorder) [SNOMED CT concept]
- freeman-sheldon syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- distal arthrogryposis [DO Concept]

Keyword's position in hierarchy(ies) :

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