| syndroom van microcefalie, verstandelijke beperking, perceptief gehoorverlies, epilepsie en afwijkende spiertonus (aandoening) | | syndroom van microcefalie, verstandelijke beperking, perceptief gehoorverlies, epilepsie en afwijkende spiertonus | | syndroom van microcefalie, verstandelijke handicap, perceptief gehoorverlies, epilepsie en abnormale spiertonus
syndroom van microcefalie, mentale retardatie, perceptief gehoorverlies, epilepsie en abnormale spierspanning
| | Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome | | Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome
| | A rare genetic disease with characteristics of microcephaly, global developmental delay, intellectual disability, abnormal muscle tone and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum and hypomyelination. |
| | Id | 1254651003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457351 |
| SNOMED CT to ICD-10 extended map | | Target | Q02 | | Rule | TRUE | | Advice | ALWAYS Q02 | 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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