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syndroom van congenitaal nefrotisch syndroom, interstitiële longziekte en epidermolysis bullosa (aandoening)
syndroom van congenitaal nefrotisch syndroom, interstitiële longziekte en epidermolysis bullosa
syndroom met congenitaal interstitiële longaandoening, nefrotisch syndroom- en epidermolysis bullosa
JEB met respiratoire en renale betrokkenheid
congenitaal ILNEB-syndroom
congenitaal interstitiële longaandoening-nefrotisch syndroom-epidermolysis bullosa-syndroom
congenitaal nefrotisch syndroom-epidermolysis bullosa-longziekte-syndroom
junctionele epidermolysis bullosa met respiratoire en renale betrokkenheid
JEB-RR
congenitaal NEP-syndroom
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome
Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome
A life-threatening multi organ disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21.
Id733453005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetN04.9
RuleTRUE
AdviceALWAYS N04.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetJ84.9
RuleTRUE
AdviceALWAYS J84.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ81.9
RuleTRUE
AdviceALWAYS Q81.9
CorrelationSNOMED CT source code to target map code correlation not specified