Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms Choroba Farbera Acid ceramidase deficiency Niedobór ceramidazy Farber lipogranulomatosis ORPHA code 333 OMIM code 228000 ICD10 code E75.2 ICD11 code 5C56.0Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl