| syndroom van kleine gestalte, doofheid, disfunctie van neutrofielen en faciale dysmorfie (aandoening) | | syndroom van kleine gestalte, doofheid, disfunctie van neutrofielen en faciale dysmorfie | | syndroom van Thong-Douglas-Ferrante
| | Thong Douglas Ferrante syndrome | | Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome
| | A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. |
| | Id | 716192009 | | 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 | 2866 |
| 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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