| syndroom van micrognathie, recidiverende infectie, gedragsstoornis en lichte verstandelijke beperking (aandoening) | | syndroom van micrognathie, recidiverende infectie, gedragsstoornis en lichte verstandelijke beperking | | syndroom van micrognathie, recidiverende infectie, gedragsstoornis en lichte mentale retardatie
syndroom van micrognathie, recidiverende infectie, gedragsstoornis en lichte verstandelijke handicap
| | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome | | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. |
| | Id | 1187114007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 476126 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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