47516005: hereditaire sferocytose door gecombineerde deficiëntie van spectrine en ankyrine (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 intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)

\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (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\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\aantal bloedcellen afwijkend (bevinding)\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\Hemoglobin low\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\Hemoglobin low\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\bepaling onder referentiebereik\cytopenie (bevinding)\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\bepaling buiten referentiebereik\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\Red blood cell count - finding\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\Measurement finding\Red blood cell count - finding\aantal erytrocyten afwijkend\verlaagd aantal erytrocyten\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\bevinding betreffende hemopoëtisch systeem\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Evaluation finding\bevinding betreffende hemopoëtisch systeem\hemoglobine buiten referentiebereik (bevinding)\Hemoglobin low\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)

\bevinding betreffende bloed, lymfatisch systeem en immuunsysteem\bevinding betreffende afbraak van erytrocyten\Hemolysis\hemolytische aandoening (aandoening)\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)

\bevinding betreffende functioneren (bevinding)\bevinding betreffende afbraak van erytrocyten\Hemolysis\hemolytische aandoening (aandoening)\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (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\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (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\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\Hereditary red blood cell disorder (disorder)\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\afwijking van erytrocytmembraan\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\aandoening van erytrocyt (aandoening)\hemolytische aandoening (aandoening)\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van hemopoëtisch systeem (aandoening)\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\Hereditary red blood cell disorder (disorder)\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\afwijking van erytrocytmembraan\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)
\Disease\ziekte van structuur van tractus\hematologische aandoening\aandoening van erytrocyt (aandoening)\hemolytische aandoening (aandoening)\Hemolytic anemia\hereditaire hemolytische anemie\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (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\hereditaire sferocytose\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (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
211831000146117	erfelijke sferocytose door gecombineerde deficiëntie van spectrine en ankyrine	nl	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
784983015	Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	en	volledig gespecificeerde naam (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
79213017	Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
8617701000146117	hereditaire sferocytose door gecombineerde deficiëntie van spectrine en ankyrine (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
8671991000146111	hereditaire sferocytose door gecombineerde deficiëntie van spectrine en ankyrine	nl	synoniem (metadata)	Active	alleen eerste karakter 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 spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Has interpretation	aanwezig	true	geïnfereerde relatie	existentiële restrictie (metadata)	4
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	interpreteert	hemolyse (waarneembare entiteit)	true	geïnfereerde relatie	existentiële restrictie (metadata)	4
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	locatie van bevinding	Entire hematological system (body structure)	false	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Is a	Hereditary spherocytosis due to spectrin deficiency	true	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Has definitional manifestation	erytropenie (bevinding)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	locatie van bevinding	Hematopoietic system structure	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Has definitional manifestation	Hemolysis	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	locatie van bevinding	Hematopoietic system structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	Spherocyte (cell)	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	sferocytose (bevinding)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	locatie van bevinding	Entire hematological system (body structure)	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Has interpretation	onder referentiebereik	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Has interpretation	onder referentiebereik	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	interpreteert	Red blood cell count	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	interpreteert	Measurement of total haemoglobin concentration	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	locatie van bevinding	Erythrocyte	true	geïnfereerde relatie	existentiële restrictie (metadata)	5
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	locatie van bevinding	Hematopoietic system structure	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Occurrence	congenitaal	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	Associated morphology	defect	false	geïnfereerde relatie	existentiële restrictie (metadata)
Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	interpreteert	afbraak van erytrocyten	false	geïnfereerde relatie	existentiële restrictie (metadata)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mild hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Is a	True	Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	geïnfereerde relatie	existentiële restrictie (metadata)
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Is a	True	Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	geïnfereerde relatie	existentiële restrictie (metadata)

This concept is not in any reference sets

Back to Start