Eye defects, arachnodactyly, cardiopathy syndrome (disorder) | | Eye defects, arachnodactyly, cardiopathy syndrome | | Al Gazali Al Talabani syndrome Al Gazali Lytle syndrome
| | A rare genetic bone development disorder with characteristics of pre and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia) and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life. Caused by mutation in the B3GALT6 gene on chromosome 1p36. |
| Id | 1208342001 | Status | Primitive |
ICD-10 complex map reference set | Target | Q87.5 | Rule | TRUE | Advice | ALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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