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klassiek-gelijkend syndroom van Ehlers-Danlos type 2 (aandoening)
klassiek-gelijkend syndroom van Ehlers-Danlos type 2
AEBP1-gerelateerd EDS
clEDS type 2
Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS (Ehlers-Danlos syndrome)
AEBP1-related Ehlers-Danlos syndrome
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (e.g. mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphism (e.g. high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.
Id1255121003
StatusPrimitive
Clinical courserecidiverend
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyluxatie
Finding sitestructuur van gewricht
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