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syndroom van hyperurikemie, pulmonale hypertensie, nierfalen en alkalose (aandoening)
syndroom van hyperurikemie, pulmonale hypertensie, nierfalen en alkalose
syndroom van hyperurikemie, pulmonale hypertensie, nierinsufficiƫntie en alkalose
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.
Id776416004
StatusPrimitive
Clinical courseprogressief
Has interpretationgestoord
Interpretsbepalen van nierfunctie
referentieset met complexe 'mapping' naar ICD-10
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