hypomagnesemia 5, renal, with ocular involvement

Preferred Label : hypomagnesemia 5, renal, with ocular involvement;

MeSH synonym : hypomagnesemia, renal, with ocular involvement; hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement; macular coloboma, bilateral, with hypercalciuria;

Details

Origin ID

C565423;

UMLS CUI

C1855466;

Automatic exact mappings (from CISMeF team)
- Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis - severe ocular involvement [ICD-11 More detail]
CISMeF manual mappings
- renal hypomagnesemia 5 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) [SNOMED CT concept]
- Hypomagnesemia 5, renal, with or without ocular involvement [OMIM Phenotype]
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement [ORDO Disease]
- renal hypomagnesemia 5 with ocular involvement [DO Concept]
MeSH term(s) associated for indexing
- eye diseases, hereditary [MeSH Descriptor]
- renal tubular transport, inborn errors [MeSH Descriptor]
Record concept(s)
- hypomagnesemia 5, renal, with ocular involvement [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) [SNOMED CT concept]
- Hypomagnesemia 5, renal, with or without ocular involvement [OMIM Phenotype]
- renal hypomagnesemia 5 [Disease (Nov.)]

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