Autosomal recessive hereditary disorder	Congenital connective tissue disorder	Congenital nephropathy	Connective tissue hereditary disorder	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 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.
	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

Id	733453005
Status	Primitive

Finding site	Structure of interstitial tissue of lung
Occurrence	Congenital

Finding site	Glomerulus structure
Occurrence	Congenital

Has interpretation	Above reference range
Interprets	Urine protein measurement

Has interpretation	Below reference range
Interprets	Albumin measurement

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	N04.9
Rule	TRUE
Advice	ALWAYS N04.9 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	J84.9
Rule	TRUE
Advice	ALWAYS J84.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q81.9
Rule	TRUE
Advice	ALWAYS Q81.9
Correlation	SNOMED CT source code to target map code correlation not specified