| syndroom van hyperurikemie, pulmonale hypertensie, nierfalen en alkalose (aandoening) | | syndroom van hyperurikemie, pulmonale hypertensie, nierfalen en alkalose | | syndroom van hyperurikemie, pulmonale hypertensie, nierinsufficiëntie 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. |
| | Id | 776416004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | N15.8 | | Term | Overige gespecificeerde tubulo-interstitiële nierziekten |
|
| SNOMED CT to Orphanet simple map | 363694 |
| SNOMED CT to ICD-10 extended map | | Target | N15.8 | | Rule | TRUE | | Advice | ALWAYS N15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
