Arthrogryposis - ophthalmoplegia - retinopathy

Preferred Label : Arthrogryposis - ophthalmoplegia - retinopathy;

ICD-11 definition : Distal arthrogryposis type 5 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 ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.;

ICD-11 synonym : Distal arthrogryposis type 5;

Details

Origin ID

162950585;

UMLS CUI

C1862472;

Currated CISMeF NLP mapping
- Arthrogryposis, distal, type 5 [OMIM Phenotype]
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [ORDO Disease]
- Distal arthrogryposis type 5 (disorder) [SNOMED CT concept]
- Oculomelic amyoplasia [MeSH concept]
- distal arthrogryposis type 5 [DO Concept]
- oculomelic amyoplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, type 5 [OMIM Phenotype]
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [ORDO Disease]
- Distal arthrogryposis type 5 (disorder) [SNOMED CT concept]
- Oculomelic amyoplasia [MeSH concept]
- distal arthrogryposis type 5 [DO Concept]
- oculomelic amyoplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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