kuskokwim disease

Preferred Label : kuskokwim disease;

Définition CISMeF : Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.;

MeSH synonym : arthrogryposis-like disorder;

Details

Origin ID

C538124;

UMLS CUI

C1859709;

Automatic exact mappings (from CISMeF team)
- Arthrogryposis (disorder) [SNOMED CT concept]
- Arthrogryposis-like syndrome (disorder) [SNOMED CT concept]
- Bruck syndrome 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Arthrogryposis-like disorder [OMIM Phenotype]
- Kuskokwim syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
Record concept(s)
- Kuskokwim disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis-like disorder [OMIM Phenotype]
- Arthrogryposis-like syndrome (disorder) [SNOMED CT concept]
- Kuskokwim syndrome [ORDO Disease]

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