| leukotrieen C4-synthasedeficiëntie (aandoening) | | leukotrieen C4-synthasedeficiëntie | | deficiëntie van leukotrieen C4-synthase
| | Deficiency of leukotriene C4 synthase | | Hypotonia with failure to thrive and microcephaly syndrome
Leukotriene C4 synthase deficiency
| | Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. |
| | Id | 717185008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 79507 |
| SNOMED CT to ICD-10 extended map | | Target | E72.8 | | Rule | TRUE | | Advice | ALWAYS E72.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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