Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Disorder of ear	Hearing loss associated with syndrome	Hereditary nephritis	Nephrotic syndrome	Sensorineural hearing loss
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Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder)
	Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
	Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome
	A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene.
	syndroom van nefrotisch syndroom, doofheid en pretibiale epidermolysis bullosa
	nefrotisch syndroom met gehoorverlies en pretibiale epidermolysis bullosa

Id	773647007
Status	Primitive

Associated morphology	Chronic inflammation
Finding site	Glomerulus structure

Finding site

Interprets

Has interpretation	Below reference range
Interprets	Albumin measurement

Has interpretation	Above reference range
Interprets	Urine protein 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	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
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