Autosomal recessive hereditary disorder
Congenital connective tissue disorder
Connective tissue hereditary disorder
Fetal and/or neonatal respiratory disorder
Genetic disease of glomerulus
Hereditary nephropathy
Interstitial lung disease
Nephrotic syndrome
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Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder)
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome
Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome
A life-threatening multiorgan 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 toenail dystrophy and sparse hair.
Id733453005
StatusPrimitive
Finding siteStructure of interstitial tissue of lung
OccurrenceCongenital
Finding siteGlomerulus structure
OccurrenceCongenital
Has interpretationAbove reference range
InterpretsUrine protein measurement
Has interpretationBelow reference range
InterpretsAlbumin measurement
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetN04.9
TermNefrotisch syndroom; niet gespecificeerd
TargetJ84.9
TermInterstitiële longziekte, niet gespecificeerd
TargetQ81.9
TermEpidermolysis bullosa, niet gespecificeerd
SNOMED CT to ICD-10 extended map
TargetJ84.8
RuleTRUE
AdviceALWAYS J84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN04.9
RuleTRUE
AdviceALWAYS N04.9
CorrelationSNOMED CT source code to target map code correlation not specified