Otospondylomegaepiphyseal dysplasia

Preferred Label : Otospondylomegaepiphyseal dysplasia;

ICD-11 definition : Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.;

Details

Origin ID

1885284987;

UMLS CUI

C4520892;

Automatic exact mappings (from CISMeF team)
- Otospondylomegaepiphyseal dysplasia [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Otospondylomegaepiphyseal dysplasia (disorder) [SNOMED CT concept]
- Otospondylomegaepiphyseal dysplasia, autosomal recessive [OMIM Phenotype]
- otospondylomegaepiphyseal dysplasia, autosomal recessive [DO Concept]
See also inter- (CISMeF)
- megaepiphyseal dwarfism [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Otospondylomegaepiphyseal dysplasia [MedDRA Preferred Term]
- Otospondylomegaepiphyseal dysplasia (disorder) [SNOMED CT concept]
- Otospondylomegaepiphyseal dysplasia, autosomal recessive [OMIM Phenotype]
- otospondylomegaepiphyseal dysplasia, autosomal recessive [DO Concept]

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