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syndroom van brachydactylie en arteriƫle hypertensie (aandoening)
syndroom van brachydactylie en arteriƫle hypertensie
Bilginturan-brachydactylie
syndroom van Bilginturan
Brachydactyly and arterial hypertension syndrome
Bilginturan brachydactyly
Brachydactyly type E with short stature and hypertension
Bilginturan syndrome
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.
Id720568003
StatusPrimitive
Has interpretationverhoogd
Interpretsbloeddruk
Associated morphologydysplasie
Finding sitebotstructuur van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1276
SNOMED CT to ICD-10 extended map
TargetQ73.8
RuleTRUE
AdviceALWAYS Q73.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetI10
RuleTRUE
AdviceALWAYS I10
CorrelationSNOMED CT source code to target map code correlation not specified