autosomaal recessieve ichtyose	congenitale afwijking van galwegen	congenitale hypotrichose	hereditaire aandoening van spijsverteringsstelsel	scleroserende cholangitis
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congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis (aandoening)
	congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis
	congenitaal syndroom van ichthyosis, hypotrichie en scleroserende cholangitis IHSC-syndroom neonataal ichtyose-scleroserende cholangitis-hypotrichose-syndroom NISCH-syndroom
	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
	NISCH syndrome NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome
	A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance.

Id	724278007
Status	Primitive

Associated morphology	hyperkeratose
Finding site	gehele huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	scleroserende ontsteking
Finding site	structuur van galwegen

Associated morphology	hypoplasie
Finding site	structuur van pilus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	inflammatoire morfologie
Finding site	structuur van galwegen
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	afwijkend
Interprets	keratinisatie

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	K83.0
Term	Cholangitis

Target	Q80.9
Term	Congenitale ichthyose, niet gespecificeerd

Target	Q84.0
Term	Congenitale alopecia

SNOMED CT to Orphanet simple map

59303

SNOMED CT to ICD-10 extended map

Target	K83.0
Rule	TRUE
Advice	ALWAYS K83.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q80.9
Rule	TRUE
Advice	ALWAYS Q80.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q84.0
Rule	TRUE
Advice	ALWAYS Q84.0
Correlation	SNOMED CT source code to target map code correlation not specified