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syndromale multisystemische auto-immuunziekte door deficiëntie van 'E3 ubiquitin-protein ligase Itchy homolog' (aandoening)
syndromale multisystemische auto-immuunziekte door ITCH-deficiëntie
syndromale multisystemische auto-immuunziekte door deficiëntie van 'E3 ubiquitin-protein ligase Itchy homolog'
Syndromic multisystem autoimmune disease due to ITCH deficiency
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency
A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11.
Id778023004
StatusPrimitive
Pathological processauto-immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified