Autosomal recessive hereditary disorder
Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome due to tenascin-X deficiency (disorder)
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome classic-like type
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.
klassiek-gelijkend syndroom van Ehlers-Danlos type 1
Ehlers-Danlos-syndroom door mutatie in TNXB
clEDS type 1
Ehlers-Danlos-syndroom door deficiëntie van tenascine XB
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
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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