| syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke beperking (aandoening) | | syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke beperking | | syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en mentale retardatie
syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke handicap
| | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | | A rare genetic neurological disorder with characteristics of postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. |
| | Id | 1173998003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 477673 |
| SNOMED CT to ICD-10 extended map | | Target | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | 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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