| autosomaal dominante primaire hypomagnesiëmie met hypocalciurie (aandoening) | | autosomaal dominante primaire hypomagnesiëmie met hypocalciurie | | autosomaal dominante primaire magnesiumdeficiëntie met hypocalciurie
autosomaal dominante primaire deficiëntie van magnesium met hypocalciurie
ADPHH
| | 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. |
| | Id | 725393000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E83.4 | | Term | Stoornissen van magnesiummetabolisme |
| Target | E83.5 | | Term | Stoornissen van calciummetabolisme |
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| SNOMED CT to Orphanet simple map | 34528 |
| SNOMED CT to ICD-10 extended map | | 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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