| lathosterolosis (aandoening) | | lathosterolosis | | Lathosterolosis | | Sterol C5 desaturase deficiency
| | Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. |
| | Id | 719257008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 46059 |
| 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 |
|
|
