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infantiele systemische hyalinose (aandoening)
infantiele systemische hyalinose
Infantile systemic hyalinosis
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by 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.
Id238867003
StatusPrimitive
Associated morphologyfibromatose
Finding sitestructuur van huid
Associated morphologycontractuur
Finding sitestructuur van gewricht
Associated morphologyhyaliene degeneratie
Associated morphologyfibreuze dysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Associated morphologyosteolyse
Finding sitebotstructuur
SNOMED CT to Orphanet simple map2176
SNOMED CT to ICD-10 extended map
TargetE78.8
RuleTRUE
AdviceALWAYS E78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified