| 'interferon regulatory factor 2 binding protein like'-gerelateerd regressief syndroom van neurobiologische ontwikkelingsstoornis, dystonie en epileptische aanvallen (aandoening) | | IRF2BPL-gerelateerd regressief syndroom van neurobiologische ontwikkelingsstoornis, dystonie en epileptische aanvallen | | 'interferon regulatory factor 2 binding protein like'-gerelateerd regressief syndroom van neurobiologische ontwikkelingsstoornis, dystonie en epileptische aanvallen
IRF2BPL-gerelateerd regressief syndroom van neurologische ontwikkelingsstoornis, dystonie en insulten
| | IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome
| | A rare genetic neurological disorder with characteristics of childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal. |
| | Id | 1303273003 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | G93.8 | | Rule | TRUE | | Advice | ALWAYS G93.8 | 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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