autosomaal recessieve hereditaire aandoening	congenitale afwijking van benig skelet	congenitale afwijking van huid	congenitale dystrofie van cornea	congenitale osteodystrofie	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van integumentum	hereditaire corneadystrofie	hereditaire ontwikkelingsstoornis	nodus van huid
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dermochondrale corneadystrofie (aandoening)
	dermochondrale corneadystrofie
	syndroom van Francois
	Francois syndrome
	Dermochondrocorneal dystrophy

Id	254150007
Status	Primitive

Associated morphology	dystrofie
Finding site	structuur van cornea
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

79149

SNOMED CT to ICD-10 extended map

Target	Q78.8
Rule	TRUE
Advice	ALWAYS Q78.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H18.5
Rule	TRUE
Advice	ALWAYS H18.5
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q82.8
Rule	TRUE
Advice	ALWAYS Q82.8
Correlation	SNOMED CT source code to target map code correlation not specified