autosomaal recessieve ichtyose	congenitale hypotrichose
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syndroom van congenitale ichtyose met hypotrichosis (aandoening)
	syndroom van congenitale ichtyose met hypotrichosis
	IHS IFAH-syndroom ichtyose-folliculaire atrofodermie-hypotrichose-syndroom hypotrichose-congenitale ichtyose-syndroom ichthyosis congenita-hypotrichosis-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.

Id	724277002
Status	Primitive

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

Associated morphology	hypoplasie
Finding site	structuur van pilus
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	Q80.8
Term	Overige gespecificeerde vormen van congenitale ichthyose

Target	Q84.0
Term	Congenitale alopecia

SNOMED CT to Orphanet simple map

91132

SNOMED CT to ICD-10 extended map

Target	Q80.8
Rule	TRUE
Advice	ALWAYS Q80.8
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