| syndroom van kleine gestalte, uniek aangezicht, hypoplasie van tandglazuur, progressieve stijfheid van gewrichten en hoog stemgeluid (aandoening) | | syndroom van kleine gestalte, uniek aangezicht, hypoplasie van tandglazuur, progressieve stijfheid van gewrichten en hoog stemgeluid | | PPT-syndroom
syndroom van Pfeiffer-Palm-Teller
| | Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | | Pfeiffer Palm Teller syndrome
PPT (Pfeiffer Palm Teller) syndrome
| | A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit. |
| | Id | 726672000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.1 | | Term | Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte |
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| SNOMED CT to Orphanet simple map | 2871 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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