infantiele systemische hyalinose (aandoening)
infantiele systemische hyalinose
Infantile systemic hyalinosis
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait.
Associated morphologyfibromatose
Finding sitestructuur van huid
Associated morphologycontractuur
Finding sitestructuur van gewricht
Associated morphologyhyaliene degeneratie
Associated morphologyfibreuze dysplasie
Finding sitebotstructuur
Associated morphologyosteolyse
Finding sitebotstructuur
SNOMED CT to Orphanet simple map2176
SNOMED CT to ICD-10 extended map
AdviceALWAYS E78.8
CorrelationSNOMED CT source code to target map code correlation not specified