| syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel (aandoening) | | syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel | | syndroom van Ferlini-Ragno-Calzolari
syndroom van Waaler-Aarskog
| | Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome | | Ferlini Ragno Calzolari syndrome
Waaler Aarskog syndrome
| | This syndrome has principal characteristics of Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant. |
| | Id | 721229003 | | 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 | 2180 |
| 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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