Autosomal recessive ichthyosis	Congenital hypotrichia
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Congenital ichthyosis with hypotrichosis syndrome (disorder)
	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.
	syndroom van congenitale ichtyose met hypotrichosis
	ichtyose-folliculaire atrofodermie-hypotrichose-syndroom hypotrichose-congenitale ichtyose-syndroom ichthyosis congenita-hypotrichosis-syndroom IHS IFAH-syndroom

Id	724277002
Status	Primitive

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

Associated morphology	Hypoplasia
Finding site	Hair 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	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