Farber disease

Orpha code: 333OMIM code: 228000

Definicja

A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

Disease data
Klasyfikacja

Disease

Synonimy
Choroba Farbera
Acid ceramidase deficiency
Niedobór ceramidazy
Farber lipogranulomatosis
Kod ORPHA
333
Kod OMIM
228000
Kod ICD10
E75.2
Kod ICD11
5C56.0Y

No additional description.

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