genetische aandoening
primair lymfoedeem
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laat optredend primair lymfoedeem gerelateerd aan 'gap junction'-eiwit gamma-2 (aandoening)
laat optredend primair lymfoedeem gerelateerd aan 'gap junction'-eiwit gamma-2
GJC2-gerelateerd laat optredend primair lymfoedeem
GJC2-related late-onset primary lymphedema
Gap junction protein gamma 2-related late-onset primary lymphedema
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
Id1222670005
StatusPrimitive
Associated morphologylymfoedeem
Finding sitestructuur van extremiteit
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map568051
SNOMED CT to ICD-10 extended map
TargetI89.0
RuleTRUE
AdviceALWAYS I89.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified