25251008: hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van gammaglutamylcysteïnesynthetase (aandoening)

SNOMED CT Concept\klinische bevinding (bevinding)\...

\Laboratory test finding (finding)\bevinding betreffende hemopoëtisch systeem\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\...

\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\Hemoglobin low\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\Hemoglobin low\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\Red blood cell count - finding\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\Red blood cell count - finding\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\Measurement finding\Red blood cell count - finding\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\bevinding betreffende hemopoëtisch systeem\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\bevinding betreffende hemopoëtisch systeem\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Evaluation finding\bevinding betreffende hemopoëtisch systeem\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

\bevinding betreffende bloed, lymfatisch systeem en immuunsysteem\bevinding betreffende afbraak van erytrocyten\Hemolysis\hemolytische aandoening (aandoening)\Hemolytic anemia\...

\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

\bevinding betreffende functioneren (bevinding)\bevinding betreffende afbraak van erytrocyten\Hemolysis\hemolytische aandoening (aandoening)\Hemolytic anemia\...

\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to metabolic disorder\anemie door enzymopathie\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\Hereditary red blood cell disorder (disorder)\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\deficiëntie van erytrocytair enzym\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\hemolytische aandoening (aandoening)\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\hemolytische aandoening (aandoening)\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\Hereditary red blood cell disorder (disorder)\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\deficiëntie van erytrocytair enzym\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\hemolytische aandoening (aandoening)\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\hemolytische aandoening (aandoening)\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: module van internationale editie (metadata)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
211091000146113	erfelijke niet-sferocytaire hemolytische anemie door gammaglutamylcysteïnesynthetasedeficiëntie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
249781000146115	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van gammaglutamylcysteïnesynthetase	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
2619922011	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): acceptabel
2619923018	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
2913257010	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): acceptabel
2914100017	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3780594014	Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
42330011	HNSHA due to gamma glutamyl cysteine synthetase deficiency	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
8617561000146111	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van gammaglutamylcysteïnesynthetase (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
8670741000146110	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van gammaglutamylcysteïnesynthetase	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Has interpretation	aanwezig	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	interpreteert	hemolyse (waarneembare entiteit)	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Is a	Hereditary nonspherocytic haemolytic anaemia	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Associated aetiologic finding	Enzymopathy	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Is a	deficiëntie van erytrocytair enzym	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Is a	Hereditary disorder of hematologic system	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Is a	Anemia due to enzyme deficiency	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Is a	Glutamate-cysteine ligase deficiency	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Is a	congenitale afwijking van hematopoëtisch systeem (aandoening)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Associated aetiologic finding	Glutamate-cysteine ligase deficiency	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Has definitional manifestation	erytropenie (bevinding)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	locatie van bevinding	Hematopoietic system structure	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Due to	Glutamate-cysteine ligase deficiency	true	geïnfereerde relatie	existentiële restrictie (metadata)	5
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Has definitional manifestation	Hemolysis	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	locatie van bevinding	structuur van lichaamssysteem	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Has interpretation	onder referentiebereik	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	interpreteert	Red blood cell count	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Has interpretation	onder referentiebereik	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	interpreteert	Measurement of total haemoglobin concentration	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	locatie van bevinding	Hematopoietic system structure	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	locatie van bevinding	Erythrocyte	true	geïnfereerde relatie	existentiële restrictie (metadata)	4
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	Occurrence	congenitaal	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	interpreteert	afbraak van erytrocyten	false	geïnfereerde relatie	existentiële restrictie (metadata)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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