| syndroom van pili torti met ontwikkelingsachterstand en neurologische afwijking (aandoening) | | syndroom van pili torti met ontwikkelingsachterstand en neurologische afwijking | | Pili torti with developmental delay and neurological abnormality syndrome | | Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. |
| | Id | 716194005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2891 |
| SNOMED CT to ICD-10 extended map | | Target | Q84.1 | | Rule | TRUE | | Advice | ALWAYS Q84.1 | 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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