|syndroom van artrogrypose, nierfunctiestoornis en cholestase (aandoening)|
syndroom van artrogrypose, nierfunctiestoornis en cholestase
Arthrogryposis with renal dysfunction and cholestasis syndrome
ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome
A multisystem disorder with characteristics of neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Mutations in the VPS33B gene (15q26.1) have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS Q89.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|