Polysyndactyly and cardiac malformation syndrome (disorder)
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Term information
definition
Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).
Term relations
Subclass of:
- Multiple system malformation syndrome (disorder)
- Polysyndactyly (disorder)
- Autosomal recessive hereditary disorder (disorder)
- Autosomal recessive hereditary disorder (disorder) and Polysyndactyly (disorder) and Multiple system malformation syndrome (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Abnormally fused structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Digit structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Morphologically abnormal structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Heart structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))