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syndroom van congenitale ichtyose met hypotrichosis (aandoening)
syndroom van congenitale ichtyose met hypotrichosis
ichtyose-folliculaire atrofodermie-hypotrichose-syndroom
hypotrichose-congenitale ichtyose-syndroom
ichthyosis congenita-hypotrichosis-syndroom
IHS
IFAH-syndroom
Congenital ichthyosis with hypotrichosis syndrome
Ichthyosis, follicular atrophoderma, hypotrichosis syndrome
Syndrome with characteristics of congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase on chromosome 11q24. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.
Id724277002
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
referentieset met complexe 'mapping' naar ICD-10
TargetQ80.8
RuleTRUE
AdviceALWAYS Q80.8
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