Orphanet: Thiemann disease, familial form

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Thiemann disease, familial form

Disease definition

A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.

ORPHA:3314

Classification level: Disorder

Synonym(s):
- Aseptic necrosis of phalangeal epiphyses
- Osteochondrosis of phalangeal epiphyses
Prevalence: <1 / 1 000 000
Inheritance: Not applicable
Age of onset: Adolescent
ICD-10: M93.2
ICD-11: FB82.1
OMIM: 165700
UMLS: -
MeSH: C537144
GARD: 4131
MedDRA: -

A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

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