| syndroom van ernstige verstandelijke beperking, hypotonie, strabismus, grof aangezicht en pes planovalgus (aandoening) | | syndroom van ernstige verstandelijke beperking, hypotonie, strabismus, grof aangezicht en pes planovalgus | | syndroom van verstandelijke handicap, lage spiertonus, scheelzien, grof gezicht en platvoeten
| | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. |
| | Id | 1197591008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 436141 |
| 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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