" /> Farber disease - CISMeF





Preferred Label : Farber disease;

ICD-11 definition : Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.;

ICD-11 synonym : Farber lipogranulomatosis; Ceramidase deficiency; Disseminated lipogranulomatosis;

Détails


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

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Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.

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31/07/2025


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