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syndroom van longagenesie, hartdefect en afwijking van digiti I (aandoening)
syndroom van longagenesie, hartdefect en afwijking van digiti I
syndroom van longagenesie, hartdefect en duimanomalie├źn
syndroom van pulmonale agenesie, hartdefect en anomalie├źn van duim
syndroom van Mardini-Nyhan
Lung agenesis with heart defect and thumb anomaly syndrome
Mardini Nyhan syndrome
A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development.
Id721976003
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van long
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ33.3
RuleTRUE
AdviceALWAYS Q33.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ24.9
RuleTRUE
AdviceALWAYS Q24.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ74.0
RuleTRUE
AdviceALWAYS Q74.0
CorrelationSNOMED CT source code to target map code correlation not specified