meier blumberg imahorn syndrome

Preferred Label : meier blumberg imahorn syndrome;

MeSH synonym : idiopathic hypercalciuria with bilateral macular colobomata;

Origin ID

C536148;

UMLS CUI

C2931121;

Automatic exact mappings (from CISMeF team)
- Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis - severe ocular involvement [ICD-11 More detail]
Currated CISMeF NLP mapping
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement [ORDO Disease]
DO Cross reference
- renal hypomagnesemia 5 with ocular involvement [DO Concept]
MeSH term(s) associated for indexing
- calcium metabolism disorders [MeSH Descriptor]
- oculocerebrorenal syndrome [MeSH Descriptor]
Record concept(s)
- Meier Blumberg Imahorn syndrome [MeSH concept]
See also inter- (CISMeF)
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) [SNOMED CT concept]
- renal hypomagnesemia 5 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement [ORDO Disease]
- renal hypomagnesemia 5 with ocular involvement [DO Concept]