Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1013491000241110 | syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 1013501000241115 | syndrome HUPRA | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 1013511000241118 | syndrome HUPRA - hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3736337013 | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736338015 | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736339011 | HUPRA syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736340013 | Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736341012 | A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricaemia, hyponatraemia, hypomagnesaemia, hypochloraemic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736342017 | A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Chronic disease of respiratory system | false | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Chronic renal failure | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Renal tubular disorder | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Chronic disease of cardiovascular system | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | localisation d'une constatation (attribut) | Structure of pulmonary blood vessel (body structure) | true | Inferred relationship | Some | 3 | |
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | interprète (attribut) | Measurement of renal function | true | Inferred relationship | Some | 1 | |
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Pulmonary hypertension | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | localisation d'une constatation (attribut) | Renal tubule structure | true | Inferred relationship | Some | 4 | |
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 1 | |
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose | est un(e) (attribut) | maladie métabolique du rein | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR