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familial primary hypomagnesemia with normocalciuria and normocalcemia

^ http://purl.obolibrary.org/obo/MONDO_0018101

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. [ Orphanet:34527 ]

Term info

database cross reference
  • SCTID:725031005 (MONDO:equivalentTo)
  • UMLS:CN204443 (MONDO:equivalentTo)
  • Orphanet:34527 (MONDO:equivalentObsolete)
  • UMLS:C4510731 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

exactMatch

http://identifiers.org/snomedct/725031005, http://linkedlifedata.com/resource/umls/id/C4510731, http://linkedlifedata.com/resource/umls/id/CN204443

id

MONDO:0018101