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congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis (aandoening)
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
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome
NISCH syndrome
NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) 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.
Id724278007
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyinflammatoire morfologie
Finding sitestructuur van galwegen
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
Associated morphologyscleroserende ontsteking
Finding sitestructuur van galwegen
referentieset met complexe 'mapping' naar ICD-10
TargetK83.0
RuleTRUE
AdviceALWAYS K83.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ80.9
RuleTRUE
AdviceALWAYS Q80.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.0
RuleTRUE
AdviceALWAYS Q84.0
CorrelationSNOMED CT source code to target map code correlation not specified