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hereditaire trombofilie door congenitale histidine-rijk (poly-L) glycoproteïne-deficiëntie (aandoening)
hereditaire trombofilie door congenitale histidine-rijk (poly-L) glycoproteïne-deficiëntie
erfelijke trombofilie door congenitale HRG-deficiëntie
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27.
Id783250007
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD68.5
RuleTRUE
AdviceALWAYS D68.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified