familial osteochondritis dissecans

Preferred Label : familial osteochondritis dissecans;

Définition CISMeF : Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.;

MeSH synonym : osteochondritis dissecans, short stature, and Early-Onset osteoarthritis;

Is substance : O;

Détails

Origin ID

C580095;

UMLS CUI

C3665488;

Automatic exact mappings (from CISMeF team)
- Familial osteochondritis dissecans [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial osteochondritis dissecans [ORDO Disease]
- Familial osteochondritis dissecans (disorder) [SNOMED CT concept]
- Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans [OMIM Phenotype]
MeSH term(s) associated for indexing
- osteochondritis dissecans [MeSH Descriptor]
Record concept(s)
- familial osteochondritis dissecans [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial osteochondritis dissecans [ORDO Disease]
- Familial osteochondritis dissecans (disorder) [SNOMED CT concept]
- Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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