Autosomal recessive hereditary disorder	Ehlers-Danlos syndrome	Enzymopathy	Inborn error of metabolism
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Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder)
	Ehlers-Danlos syndrome, procollagen proteinase deficient
	Procollagen peptidase deficiency Dermatosparaxis Procollagen aminoprotease deficiency Procollagen protease deficiency Arthrochalasia multiplex congenita Arthrochalasis multiplex congenita Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome, autosomal recessive type 7
	Ehlers-Danlos-syndroom van dermatosparaxistype
	Ehlers-Danlos-syndroom door mutatie in ADAMTS2 dermatosparaxis-EDS dermatosparaxisvorm van Ehlers-Danlos-syndroom Ehlers-Danlos-syndroom door deficiëntie van procollageen-n-proteïnase dEDS

Id	55711009
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Connective tissue structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q79.6
Rule	TRUE
Advice	ALWAYS Q79.6
Correlation	SNOMED CT source code to target map code correlation not specified