autosomaal recessieve hereditaire aandoening	congenitale aandoening van bindweefsel	congenitale nefropathie	hereditaire aandoening van bindweefsel	hereditaire nefropathie	interstitiële longziekte	nefrotisch syndroom	respiratoire aandoening van foetus of neonaat
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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
	junctionele epidermolysis bullosa met respiratoire en renale betrokkenheid JEB-RR congenitaal NEP-syndroom 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
	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.

Id	733453005
Status	Primitive

Finding site	structuur van interstitieel weefsel van long
Occurrence	congenitaal

Finding site	structuur van glomerulus
Occurrence	congenitaal

Has interpretation	boven referentiebereik
Interprets	bepaling van eiwit in urine

Has interpretation	onder referentiebereik
Interprets	bepaling van albumine

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	N04.9
Term	Nefrotisch syndroom; niet gespecificeerd

Target	J84.9
Term	Interstitiële longziekte, niet gespecificeerd

Target	Q81.9
Term	Epidermolysis bullosa, niet gespecificeerd

SNOMED CT to Orphanet simple map

306504

SNOMED CT to ICD-10 extended map

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