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gecombineerd defect in oxidatieve fosforylering door deficiƫntie van mitochondriaal tryptofanyl-tRNA-synthetase (aandoening)
gecombineerd defect in oxidatieve fosforylering gerelateerd aan WARS2
gecombineerd defect in oxidatieve fosforylering door deficiƫntie van mitochondriaal tryptofanyl-tRNA-synthetase
WARS2-related combined oxidative phosphorylation defect
Mitochondrial tryptophanyl-tRNA synthetase deficiency
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.
Id1260128008
StatusPrimitive
Occurrencecongenitaal
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map572798
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified