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syndroom van moyamoya-angiopathie, kleine gestalte, faciale dysmorfie en hypergonadotroop hypogonadisme (aandoening)
syndroom van moyamoya-angiopathie, kleine gestalte, faciale dysmorfie en hypergonadotroop hypogonadisme
moyamoya-angiopathie-kleine gestalte-faciale dysmorfie-hypergonadotroop hypogonadisme-syndroom
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
Moyamoya disease, short stature, facial dysmorphism, hypergonadotropic hypogonadism
A very rare hereditary neurological dysmorphic syndrome with characteristics of moyamoya disease, short stature of postnatal onset and stereotypical facial dysmorphism. The syndrome is extremely rare and has been reported in three unrelated families to date, with 10 affected individuals in several generations. These families are not from Japan or Asia, whereas in general the incidence of moyamoya disease is highest in Japan and other Asian countries, in comparison with other parts of the world. Affected patients are all male (X-linked inheritance) and have moyamoya angiopathy (progressive stenosis of the terminal portion of the intracranial internal carotid arteries), short stature, hypergonadotropic hypogonadism and other variable manifestations.. The genetic cause appears to involve Xq28 deletions removing MTCP1/CMC4 and BRCC3 (Xq28) .The specific pathophysiological mechanisms underlying this disorder remain obscure, but appear to involve alteration in DNA repair.
Id724097003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetI67.5
RuleTRUE
AdviceALWAYS I67.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ18.9
RuleTRUE
AdviceALWAYS Q18.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0
CorrelationSNOMED CT source code to target map code correlation not specified