Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) | | Autosomal dominant primary hypomagnesemia with hypocalciuria | | Isolated autosomal dominant hypomagnesemia Isolated renal magnesium wasting HOMG2 - renal hypomagnesemia type 2
| | A mild form of familial primary hypomagnesemia characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localized on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant. | | autosomaal dominante primaire hypomagnesiëmie met hypocalciurie | | ADPHH autosomaal dominante primaire magnesiumdeficiëntie met hypocalciurie autosomaal dominante primaire deficiëntie van magnesium met hypocalciurie
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| Id | 725393000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | E83.4 | Rule | TRUE | Advice | ALWAYS E83.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | E83.5 | Rule | TRUE | Advice | ALWAYS E83.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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