| syndroom van leukencefalopathie, malformatie van thalamus en hersenstam en hoog lactaatgehalte (aandoening) | | syndroom van leukencefalopathie, malformatie van thalamus en hersenstam en hoog lactaatgehalte | | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome | | COXPD12 - combined oxidative phosphorylation defect type 12
Combined oxidative phosphorylation defect type 12
| | A rare genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form has characteristics of delayed psychomotor development, seizures, early-onset hypotonia and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age and temporary high lactate levels, with overall clinical improvement from the second year onward. The disease is caused by homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p. |
| | Id | 763366000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G93.4 | | Term | Encefalopathie, niet gespecificeerd |
| Target | Q04.9 | | Term | Congenitale misvorming van hersenen, niet gespecificeerd |
| Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 314051 |
| SNOMED CT to ICD-10 extended map | | Target | G93.4 | | Rule | TRUE | | Advice | ALWAYS G93.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q04.9 | | Rule | TRUE | | Advice | ALWAYS Q04.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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