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1269225005: Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5183250013 Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183251012 Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183252017 Haemolytic uraemic syndrome with DGKE deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5183253010 Hemolytic uremic syndrome with DGKE deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5183254016 Haemolytic uraemic syndrome with diacylglycerol kinase epsilon deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400682018 A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400683011 A rare genetic haemolytic uraemic syndrome (HUS) characterised by infantile onset of relapsing episodes of microangiopathic haemolytic anaemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, haematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5183250013 Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183251012 Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183252017 Haemolytic uraemic syndrome with DGKE deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5183253010 Hemolytic uremic syndrome with DGKE deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5183254016 Haemolytic uraemic syndrome with diacylglycerol kinase epsilon deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5183255015 A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5183256019 A rare genetic haemolytic uraemic syndrome (HUS) characterised by infantile onset of relapsing episodes of microangiopathic haemolytic anaemia, thrombocytopenia and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, haematuria and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400682018 A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400683011 A rare genetic haemolytic uraemic syndrome (HUS) characterised by infantile onset of relapsing episodes of microangiopathic haemolytic anaemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, haematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Haemolytic uraemic syndrome with DGKE deficiency Is a Haemolytic uraemic syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Haemolytic uraemic syndrome with DGKE deficiency Clinical course Sudden onset AND/OR short duration (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Haemolytic uraemic syndrome with DGKE deficiency Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Haemolytic uraemic syndrome with DGKE deficiency Finding site Erythrocyte true Inferred relationship Existential restriction modifier (core metadata concept) 8
Haemolytic uraemic syndrome with DGKE deficiency Associated morphology Schistocyte true Inferred relationship Existential restriction modifier (core metadata concept) 5
Haemolytic uraemic syndrome with DGKE deficiency Interprets Renal function true Inferred relationship Existential restriction modifier (core metadata concept) 1
Haemolytic uraemic syndrome with DGKE deficiency Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Haemolytic uraemic syndrome with DGKE deficiency Interprets Measurement of total haemoglobin concentration true Inferred relationship Existential restriction modifier (core metadata concept) 2
Haemolytic uraemic syndrome with DGKE deficiency Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Haemolytic uraemic syndrome with DGKE deficiency Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 3
Haemolytic uraemic syndrome with DGKE deficiency Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Haemolytic uraemic syndrome with DGKE deficiency Interprets Haemolysis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Haemolytic uraemic syndrome with DGKE deficiency Has interpretation Present (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Haemolytic uraemic syndrome with DGKE deficiency Interprets Red blood cell count true Inferred relationship Existential restriction modifier (core metadata concept) 9
Haemolytic uraemic syndrome with DGKE deficiency Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 9
Haemolytic uraemic syndrome with DGKE deficiency Finding site Structure of arteriole (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 10
Haemolytic uraemic syndrome with DGKE deficiency Associated morphology Microthrombus (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 10
Haemolytic uraemic syndrome with DGKE deficiency Finding site Structure of capillary blood vessel true Inferred relationship Existential restriction modifier (core metadata concept) 11
Haemolytic uraemic syndrome with DGKE deficiency Associated morphology Microthrombus (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 11
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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