| syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking (aandoening) | | syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking | | syndroom van craniosynostose, congenitale hartafwijking en mentale retardatie
cardiocraniaalsyndroom Pfeiffer-type
syndroom van Pfeiffer-Singer-Zschiesche
| | Cardiocranial syndrome Pfeiffer type | | Craniosynostosis with congenital heart disease and intellectual disability syndrome
Pfeiffer Singer Zschiesche syndrome
Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis
| | An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes. |
| | Id | 720606005 | | 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 | 2872 |
| 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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