52212006: hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionreductase (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 glutathione reductase deficiency (disorder)

\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)
\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase deficiency (disorder)

\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione reductase 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 glutathione reductase deficiency (disorder)

\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione reductase 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 glutathione reductase deficiency (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary nonspherocytic hemolytic anemia due to glutathione reductase 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 glutathione reductase 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 glutathione reductase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase 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 glutathione reductase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: module van internationale editie (metadata)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
211131000146111	erfelijke niet-sferocytaire hemolytische anemie door glutathionreductasedeficiëntie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
249851000146118	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van glutathionreductase	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
2620821011	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glutathione reductase deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
2620822016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione reductase deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): acceptabel
2913721018	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
2914212013	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): acceptabel
3780597019	Hereditary nonspherocytic haemolytic anaemia due to glutathione reductase deficiency	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
496237014	Erythrocytic glutathione deficiency anaemia	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
8617721000146113	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionreductase (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
8670781000146115	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionreductase	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
86892013	HNSHA due to glutathione reductase deficiency	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
86893015	Erythrocytic glutathione deficiency anemia	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): acceptabel

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Netherlands Dutch language reference set

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