34194007: hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van pyrimidine-5'-nucleotidase (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 pyrimidine-5'-nucleotidase deficiency (disorder)

\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)
\Hemolytic anemia\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency (disorder)

\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency (disorder)

\hereditaire hemolytische anemie\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\deficiëntie van erytrocytair enzym\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\deficiëntie van erytrocytair enzym\Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: module van internationale editie (metadata)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
211231000146116	erfelijke niet-sferocytaire hemolytische anemie door pyrimidine-5'-nucleotidasedeficiëntie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
249901000146114	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van pyrimidine-5'-nucleotidase	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
2620665017	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to pyrimidine-5'-nucleotidase deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
2620666016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to pyrimidine-5'-nucleotidase deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): acceptabel
2914455010	Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
2914786017	Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): acceptabel
3780599016	Hereditary nonspherocytic haemolytic anaemia due to pyrimidine-5'-nucleotidase deficiency	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
57102018	HNSHA due to pyrimidine-5'-nucleotidase deficiency	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
8617621000146115	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van pyrimidine-5'-nucleotidase (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
8670831000146112	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van pyrimidine-5'-nucleotidase	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 pyrimidine-5'-nucleotidase deficiency (disorder)	Has interpretation	aanwezig	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	interpreteert	hemolyse (waarneembare entiteit)	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Is a	Hereditary nonspherocytic haemolytic anaemia	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Associated aetiologic finding	Enzymopathy	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Is a	Anemia due to enzyme deficiency	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Is a	Hereditary disorder of hematologic system	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Is a	deficiëntie van erytrocytair enzym	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	locatie van bevinding	Hematopoietic system structure	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Has definitional manifestation	erytropenie (bevinding)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Due to	Enzymopathy	true	geïnfereerde relatie	existentiële restrictie (metadata)	5
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Has definitional manifestation	Hemolysis	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	locatie van bevinding	structuur van lichaamssysteem	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Has interpretation	onder referentiebereik	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Has interpretation	onder referentiebereik	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	interpreteert	Red blood cell count	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	interpreteert	Measurement of total haemoglobin concentration	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	locatie van bevinding	Hematopoietic system structure	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	locatie van bevinding	Erythrocyte	true	geïnfereerde relatie	existentiële restrictie (metadata)	4
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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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