Mseleni joint disease

Preferred Label : Mseleni joint disease;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Mseleni joint disease is a familial degenerative osteoarthropathy affecting several hundred persons in a remote rural region of northern Zululand, South Africa. The condition presents in childhood and progresses relentlessly, leading to severe physical handicap by early adulthood (summary by Agarwal et al., 1997).;

Prefixed ID : 613342;

Détails

Origin ID

613342;

UMLS CUI

C2931420;

CISMeF manual mappings
- Brachydactylous dwarfism Mseleni type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachydactylous dwarfism Mseleni type [MeSH concept]
- Brachydactylous dwarfism, Mseleni type [ICD-11 More detail]
- Brachydactylous dwarfism, Mseleni type [ORDO Disease]
- brachydactylous dwarfism mseleni type [MeSH Supplementary Concept]
HPO term(s)
- Severe short stature [HPO term]
ORDO concept(s)
- Brachydactylous dwarfism, Mseleni type [ORDO Disease]
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]
- Brachydactylous dwarfism, Mseleni type [ICD-11 More detail]
- brachydactylous dwarfism mseleni type [MeSH Supplementary Concept]

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

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