oculomelic amyoplasia

Preferred Label : oculomelic amyoplasia;

MeSH synonym : arthrogryposis with oculomotor limitation and electroretinal abnormalities; arthrogryposis, distal, type IIb; arthrogryposis, distal, type 5;

Details

Origin ID

C537737;

UMLS CUI

C1862472;

Currated CISMeF NLP mapping
- Arthrogryposis - ophthalmoplegia - retinopathy [ICD-11 More detail]
- Arthrogryposis, distal, type 5 [OMIM Phenotype]
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [ORDO Disease]
- Distal arthrogryposis type 5 (disorder) [SNOMED CT concept]
- distal arthrogryposis type 5 [DO Concept]
DO Cross reference
- distal arthrogryposis type 5 [DO Concept]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
- ophthalmoplegia [MeSH Descriptor]
- retinal diseases [MeSH Descriptor]
Record concept(s)
- Oculomelic amyoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis - ophthalmoplegia - retinopathy [ICD-11 More detail]
- Arthrogryposis, distal, type 5 [OMIM Phenotype]
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [ORDO Disease]
- Distal arthrogryposis type 5 (disorder) [SNOMED CT concept]
- distal arthrogryposis type 5 [DO Concept]

Keyword's position in hierarchy(ies) :

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