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

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Acute genitourinary disorder\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Impaired urinary system function (finding)\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Acute genitourinary disorder\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Acute genitourinary disorder\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

\Functional finding\Impaired urinary system function (finding)\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Functional finding\Finding of renal function\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)

\Disease\Genetic disease\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anaemia due to abnormality extrinsic to the red cell\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Acute genitourinary disorder\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Microangiopathic hemolytic anemia\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Acute genitourinary disorder\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Renal impairment\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)
\Disease\Acute disease\Acute genitourinary disorder\Acute nephropathy\Acute renal impairment\Hemolytic uremic syndrome\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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Is a	Hemolytic uremic syndrome	true	Inferred relationship	Some
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Clinical course	Sudden onset AND/OR short duration (qualifier value)	true	Inferred relationship	Some	6
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Finding site	Kidney structure	true	Inferred relationship	Some	7
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	8
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Associated morphology	Schistocyte	true	Inferred relationship	Some	5
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Interprets	Renal function	true	Inferred relationship	Some	1
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	1
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Interprets	Platelet count	true	Inferred relationship	Some	3
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	4
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Has interpretation	Present	true	Inferred relationship	Some	4
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	9
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	9

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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