| 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 characterized by 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. |
| | Id | 776416004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 363694 |
| 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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