Arthrogryposis - severe scoliosis

Preferred Label : Arthrogryposis - severe scoliosis;

ICD-11 definition : Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.;

ICD-11 synonym : Distal arthrogryposis type 4;

Details

Origin ID

1419377474;

UMLS CUI

C1836756;

Currated CISMeF NLP mapping
- Arthrogryposis, distal, type 4 [OMIM Phenotype]
- Arthrogryposis-severe scoliosis syndrome [ORDO Disease]
- Distal arthrogryposis type 4 (disorder) [SNOMED CT concept]
- arthrogryposis, distal, type 4 [MeSH Supplementary Concept]
- arthrogryposis, distal, type 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, type 4 [OMIM Phenotype]
- Arthrogryposis-severe scoliosis syndrome [ORDO Disease]
- Distal arthrogryposis type 4 (disorder) [SNOMED CT concept]
- arthrogryposis, distal, type 4 [MeSH concept]
- arthrogryposis, distal, type 4 [MeSH Supplementary Concept]
- distal arthrogryposis type 4 [DO Concept]

Keyword's position in hierarchy(ies) :

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