| Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) | | SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome | | Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome
| | A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfunction. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients. |
| | Id | 1367656002 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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