Freeman-Sheldon Syndrome

Preferred Label : Freeman-Sheldon Syndrome;

NCIt synonyms : DA2A; Windmill-Vane-Hand Syndrome; Craniocarpotarsal Dysplasia; Distal Arthrogryposis Type 2A; Cranio-Carpo-Tarsal Syndrome; Whistling-Face Syndrome; Freeman Sheldon Syndrome;

NCIt definition : A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties.;

Details

Origin ID

C98931;

UMLS CUI

C0265224;

Automatic exact mappings (from CISMeF team)
- Freeman-Sheldon syndrome [DO Concept]
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 2A [DO Concept]
Currated CISMeF NLP mapping
- Arthrogryposis, distal, type 2a [OMIM Phenotype]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome [MeSH Supplementary Concept]
- Freeman-Sheldon syndrome [MeSH concept]
- Freeman-Sheldon syndrome [ICD-11 More detail]
- Freeman-Sheldon syndrome [MedDRA Preferred Term]
- Freeman-Sheldon syndrome (disorder) [SNOMED CT concept]
- freeman-sheldon syndrome [SNOMED Notion]
DO Cross reference
- Freeman-Sheldon syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, type 2a [OMIM Phenotype]
- Freeman-Sheldon syndrome [ORDO Disease]
- Freeman-Sheldon syndrome [MeSH Supplementary Concept]
- Freeman-Sheldon syndrome [MeSH concept]
- 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]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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