| syndroom van progressieve essentiële tremor, spraakstoornis, afwijking van aangezicht, verstandelijke beperking en gedragsstoornis (aandoening) | | syndroom van progressieve essentiële tremor, spraakstoornis, afwijking van aangezicht, verstandelijke beperking en gedragsstoornis | | syndroom van progressieve essentiële tremor, stoornis van stemgebruik, afwijking van aangezicht, mentale retardatie en abnormaal gedrag
syndroom van progressieve essentiële tremor, spraakstoornis, afwijking van gelaat, verstandelijke handicap en gedragsstoornis
| | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome | | A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin. |
| | Id | 1260130005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457212 |
| SNOMED CT to ICD-10 extended map | | Target | F78.1 | | Rule | TRUE | | Advice | ALWAYS F78.1 | 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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