Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis

Preferred Label : Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis;

ICD-11 definition : Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disease, characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed, and in one third to half of the patients, ocular abnormalities such as horizontal nystagmus, myopia, corneal calcifications and chorioretinitis are observed.;

ICD-11 synonym : HOMG3 - [Renal hypomagnesaemia type 3]; Renal hypomagnesaemia type 3;

ICD-11 acronym : HOMG3;

Details

Origin ID

85589118;

Automatic exact mappings (from CISMeF team)
- hypomagnesemia primary [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis [MedDRA LLT]
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis [MedDRA LLT]
- Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) [SNOMED CT concept]
- Hypomagnesemia 3, renal [OMIM Phenotype]
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement [ORDO Disease]
- renal hypomagnesemia 3 [DO Concept]
- renal hypomagnesemia 3 [Disease (Nov.)]
See also inter- (CISMeF)
- claudin 16 [ORDO Gene]

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