Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis - severe ocular involvement

Preferred Label : Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis - severe ocular involvement;

ICD-11 definition : Familial primary hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement is a form of familial primary hypomagnesemia, characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.;

ICD-11 synonym : Meier-Blumberg-Imahorn syndrome; Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; Hypercalciuria - bilateral macular coloboma;

Details

Origin ID

154680834;

Automatic exact mappings (from CISMeF team)
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) [SNOMED CT concept]
- Hypomagnesemia 5, renal, with or without ocular involvement [OMIM Phenotype]
- Meier Blumberg Imahorn syndrome [MeSH concept]
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement [ORDO Disease]
- hypomagnesemia 5, renal, with ocular involvement [MeSH Supplementary Concept]
- meier blumberg imahorn syndrome [MeSH Supplementary Concept]
- renal hypomagnesemia 5 with ocular involvement [DO Concept]
See also inter- (CISMeF)
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement [ORDO Disease]

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