Autosomal recessive ichthyosis	Congenital anomaly of biliary tract	Congenital hypotrichia	Digestive system hereditary disorder	Sclerosing cholangitis
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Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
	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.
	congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis
	NISCH-syndroom congenitaal syndroom van ichthyosis, hypotrichie en scleroserende cholangitis IHSC-syndroom neonataal ichtyose-scleroserende cholangitis-hypotrichose-syndroom

Id	724278007
Status	Primitive

Associated morphology	Hyperkeratosis
Finding site	Entire skin
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Sclerosing inflammation
Finding site	Biliary tract structure

Associated morphology	Hypoplasia
Finding site	Hair structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Inflammatory morphology
Finding site	Biliary tract structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Abnormal
Interprets	Keratinization

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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