| syndroom van ernstige achondroplasie, ontwikkelingsachterstand en acanthosis nigricans (aandoening) | | syndroom van ernstige achondroplasie, ontwikkelingsachterstand en acanthosis nigricans | | Severe achondroplasia, developmental delay, acanthosis nigricans syndrome | | SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome
| | Syndrome with the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). |
| | Id | 874931001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 85165 |
| SNOMED CT to ICD-10 extended map | | Target | Q77.4 | | Rule | TRUE | | Advice | ALWAYS Q77.4 | 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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