Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3441990011 | Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3441991010 | Autosomal dominant primary hypomagnesemia with hypocalciuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3441992015 | Autosomal dominant primary hypomagnesaemia with hypocalciuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3441993013 | Isolated renal magnesium wasting | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3441994019 | HOMG2 - renal hypomagnesemia type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3441995018 | Isolated autosomal dominant hypomagnesemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3441996017 | HOMG2 - renal hypomagnesaemia type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3441997014 | Isolated autosomal dominant hypomagnesaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 761011000241113 | hypomagnésémie primaire autosomique dominante avec hypocalciurie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 911981000172115 | HOMG2 - hypomagnésémie rénale type 2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 948321000172116 | hypomagnésémie primaire autosomique dominante avec hypocalciurie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3441998016 | A mild form of familial primary hypomagnesemia characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localized on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3441999012 | A mild form of familial primary hypomagnesaemia characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localised on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) | est un(e) (attribut) | Primary hypomagnesemia | true | Inferred relationship | Some | ||
| Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) | est un(e) (attribut) | Hypocalciuria | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR