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X-gebonden syndroom van keloïd-littekenvorming, verminderde gewrichtsmobiliteit en verhoogde papilexcavatie (aandoening)
X-gebonden syndroom van keloïd-littekenvorming, verminderde gewrichtsmobiliteit en verhoogde papilexcavatie
X-gebonden syndroom van keloïdvorming, verminderde gewrichtsmobiliteit en verhoogde 'cup-to-disc ratio'
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome
A rare genetic disease with characteristics of congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, high arched palate). Female carriers exhibit a variable milder phenotype.
Id1172692006
StatusPrimitive
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologylitteken
Finding sitestructuur van huid
Associated morphologykeloïd
Finding sitestructuur van huid
Has interpretationverhoogd
InterpretsOptic cup/disc ratio
ICD-10 complex map reference set
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified