Brachydactylous dwarfism, Mseleni type

Preferred Label : Brachydactylous dwarfism, Mseleni type;

ICD-11 definition : Brachydactylous dwarfism, Mseleni type is an unusual form of progressive degenerative osteoarthropathy affecting mainly the major joints of the hips, knees, ankles and spine. It is characterized by short stature and marked brachydactyly of fingers and toes, often associated with osteopenia.;

Details

Origin ID

419953164;

UMLS CUI

C2931420;

Currated CISMeF NLP mapping
- Brachydactylous dwarfism Mseleni type [MeSH concept]
- Brachydactylous dwarfism Mseleni type (disorder) [SNOMED CT concept]
- Brachydactylous dwarfism, Mseleni type [ORDO Disease]
- Mseleni joint disease [OMIM Phenotype]
- brachydactylous dwarfism mseleni type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactylous dwarfism Mseleni type [MeSH concept]
- Brachydactylous dwarfism Mseleni type (disorder) [SNOMED CT concept]
- Brachydactylous dwarfism, Mseleni type [ORDO Disease]
- Mseleni joint disease [OMIM Phenotype]
- brachydactylous dwarfism mseleni type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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