stickler syndrome, type 3

Preferred Label : stickler syndrome, type 3;

MeSH synonym : stickler syndrome nonocular type; stickler syndrome, nonocular type; stickler syndrome, type III;

Details

Origin ID

C537494;

UMLS CUI

C1861481;

Currated CISMeF NLP mapping
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Otospondylomegaepiphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- Stickler syndrome type 3 [ICD-11 More detail]
- Stickler syndrome type 3 (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- arthritis [MeSH Descriptor]
- connective tissue diseases [MeSH Descriptor]
ORDO relation(s)
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
Record concept(s)
- Stickler syndrome, type 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Otospondylomegaepiphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- Stickler syndrome type 3 (disorder) [SNOMED CT concept]

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