Synovial chondromatosis, familial, with dwarfism

Preferred Label : Synovial chondromatosis, familial, with dwarfism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 186575;

Details

Origin ID

186575;

UMLS CUI

C1861304;

Currated CISMeF NLP mapping
- synovial chondromatosis, familial, with dwarfism [MeSH concept]
- synovial chondromatosis, familial, with dwarfism [MeSH Supplementary Concept]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dwarfism [HPO term]
- Severe short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- synovial chondromatosis, familial, with dwarfism [MeSH Supplementary Concept]
- synovial chondromatosis, familial, with dwarfism [MeSH concept]

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