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syndroom van Carney-complex, trismus en pseudocamptodactylie (aandoening)
syndroom van Carney-complex, trismus en pseudocamptodactylie
syndroom van LAMB-syndroom, trismus en distale arthrogryposis
syndroom van NAME-syndroom, trismus en distale arthrogryposis
Carney-complexvariant
Carney complex, trismus, pseudocamptodactyly syndrome
Carney complex variant
A rare genetic heart-hand syndrome with characteristics of typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Id766881008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymyxomateus neoplasma
Finding sitestructuur van hart
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD15.1
RuleTRUE
AdviceALWAYS D15.1 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified