| syndroom van groeiachterstand, ontwikkelingsachterstand, hypotonie, verlies van gezichtsvermogen en lactaatacidose (aandoening) | | syndroom van groeiachterstand, ontwikkelingsachterstand, hypotonie, verlies van gezichtsvermogen en lactaatacidose | | syndroom van vertraagde groei en ontwikkeling, hypotonie, visuele beperking en melkzuuracidose
syndroom van groei- en ontwikkelingsachterstand, hypotonie, visuele beperking en lactaatacidose
| | Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome | | A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26. |
| | Id | 774205007 | | 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 | 391348 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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