Autosomal recessive hereditary disorder
Cardiovascular system hereditary disorder
Chronic disease of cardiovascular system
Chronic metabolic disorder
Chronic renal failure
Hereditary metabolic disease
Hereditary nephropathy
Metabolic renal disease
Mitochondrial cytopathy
Mitochondrial tubulopathy
Pulmonary hypertension
Renal tubular disorder
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Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
HUPRA syndrome
A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2.
syndroom van hyperurikemie, pulmonale hypertensie, nierfalen en alkalose
syndroom van hyperurikemie, pulmonale hypertensie, nierinsufficiëntie en alkalose
Id776416004
StatusPrimitive
Clinical courseProgressive
Finding siteStructure of pulmonary blood vessel
Has interpretationImpaired
InterpretsMeasurement of renal function
Finding siteRenal tubule structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetN15.8
RuleTRUE
AdviceALWAYS N15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified