autosomaal recessieve hereditaire aandoening	Ehlers-Danlos-syndroom
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klassiek-gelijkend syndroom van Ehlers-Danlos type 1 (aandoening)
	klassiek-gelijkend syndroom van Ehlers-Danlos type 1
	Ehlers-Danlos-syndroom door deficiëntie van tenascine XB Ehlers-Danlos-syndroom door mutatie in TNXB clEDS type 1
	Classical-like Ehlers-Danlos syndrome type 1
	Ehlers-Danlos syndrome classic-like type Ehlers-Danlos syndrome due to tenascin-X deficiency
	A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.

Id	778022009
Status	Primitive

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

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

Associated morphology	morfologische afwijking
Finding site	structuur van bindweefsel
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q79.6
Term	Syndroom van Ehlers-Danlos

SNOMED CT to Orphanet simple map

230839

SNOMED CT to ICD-10 extended map

Target	Q79.6
Rule	TRUE
Advice	ALWAYS Q79.6 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified