afwijkend weefsel van huid	arthrogryposis multiplex congenita	congenitale afwijking van huid	keratodermie
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letale vorm van syndroom van artrogrypose en hyperkeratose (aandoening)
	letale vorm van syndroom van artrogrypose en hyperkeratose
	Johnston-Aarons-Schelley-syndroom syndroom van Johnston-Aarons-Schelley
	Arthrogryposis hyperkeratosis syndrome lethal form
	Johnston Aarons Schelley syndrome
	An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993.

Id	726620005
Status	Primitive

Associated morphology	contractuur
Finding site	structuur van gewricht van meerdere lichaamsregio's

Associated morphology	afwijkend weefsel
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	contractuur
Finding site	structuur van gewrichtsregio
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	verlaagd
Interprets	'range of motion' van gewricht

Associated morphology	hyperkeratose
Finding site	structuur van huid

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q74.3
Term	Arthrogryposis multiplex congenita

Target	Q80.8
Term	Overige gespecificeerde vormen van congenitale ichthyose

SNOMED CT to Orphanet simple map

1485

SNOMED CT to ICD-10 extended map

Target	Q74.3
Rule	TRUE
Advice	ALWAYS Q74.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q80.8
Rule	TRUE
Advice	ALWAYS Q80.8
Correlation	SNOMED CT source code to target map code correlation not specified