Autosomal recessive hereditary disorder
Ehlers-Danlos syndrome
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Classical-like Ehlers-Danlos syndrome type 1 (disorder)
Classical-like Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome classic-like type
Ehlers-Danlos syndrome due to tenascin-X deficiency
A form 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, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.
Id778022009
StatusPrimitive
Associated morphologyDysplasia
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteConnective tissue structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ79.6
TermSyndroom van Ehlers-Danlos
SNOMED CT to ICD-10 extended map
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified