28975000: Constitutional aplastic anemia (disorder)

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

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leukocyte number (finding)\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number (finding)\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\...

\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia

\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia

\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anemia
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia
\Disease\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia
\Disease\Congenital disease (disorder)\Congenital anemia\Constitutional aplastic anemia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Constitutional aplastic anemia	Is a	Aplastic anemia	false	Inferred relationship	Some
Constitutional aplastic anemia	Is a	Anemia due to decreased red cell production	false	Inferred relationship	Some
Constitutional aplastic anemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Some
Constitutional aplastic anemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Constitutional aplastic anemia	Finding site	Bone marrow structure	false	Inferred relationship	Some	1
Constitutional aplastic anemia	Associated morphology	Aplasia	false	Inferred relationship	Some	1
Constitutional aplastic anemia	Is a	Aplastic anaemia	false	Inferred relationship	Some
Constitutional aplastic anemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Some
Constitutional aplastic anemia	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
Constitutional aplastic anemia	Finding site	Bone structure	false	Inferred relationship	Some
Constitutional aplastic anemia	Associated morphology	Aplasia	false	Inferred relationship	Some	1
Constitutional aplastic anemia	Finding site	Bone marrow structure	false	Inferred relationship	Some	1
Constitutional aplastic anemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	6
Constitutional aplastic anemia	Is a	Aplastic anaemia	true	Inferred relationship	Some
Constitutional aplastic anemia	Has definitional manifestation	Cytopenia	false	Inferred relationship	Some
Constitutional aplastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Constitutional aplastic anemia	Finding site	Bone marrow structure	true	Inferred relationship	Some	3
Constitutional aplastic anemia	Associated morphology	Aplasia	true	Inferred relationship	Some	3
Constitutional aplastic anemia	Interprets	Platelet count	true	Inferred relationship	Some	5
Constitutional aplastic anemia	Is a	Congenital thrombocytopenia (disorder)	true	Inferred relationship	Some
Constitutional aplastic anemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Constitutional aplastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Constitutional aplastic anemia	Is a	Congenital anomaly of the hematopoietic system	true	Inferred relationship	Some
Constitutional aplastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Constitutional aplastic anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Constitutional aplastic anemia	Interprets	White blood cell count	true	Inferred relationship	Some	2
Constitutional aplastic anemia	Interprets	Red blood cell count	true	Inferred relationship	Some	4
Constitutional aplastic anemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Constitutional aplastic anemia	Is a	Bone marrow disorder	false	Inferred relationship	Some
Constitutional aplastic anemia	Is a	Pancytopenia	false	Inferred relationship	Some
Constitutional aplastic anemia	Is a	Cytopenia	false	Inferred relationship	Some
Constitutional aplastic anemia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Constitutional aplastic anemia	Is a	Congenital anemia	true	Inferred relationship	Some
Constitutional aplastic anemia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	8
Constitutional aplastic anemia	Has interpretation	Abnormal	false	Inferred relationship	Some	7
Constitutional aplastic anemia	Interprets	Hemostatic function	true	Inferred relationship	Some	7
Constitutional aplastic anemia	Has interpretation	Abnormal	true	Inferred relationship	Some	7

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Constitutional aplastic anemia without mention of malformation	Is a	False	Constitutional aplastic anemia	Inferred relationship	Some
Constitutional aplastic anemia with malformation	Is a	True	Constitutional aplastic anemia	Inferred relationship	Some
Revesz syndrome (disorder)	Is a	True	Constitutional aplastic anemia	Inferred relationship	Some
Fanconi's anemia	Is a	True	Constitutional aplastic anemia	Inferred relationship	Some
WT limb blood syndrome (disorder)	Is a	True	Constitutional aplastic anemia	Inferred relationship	Some
Pancytopenia with developmental delay syndrome	Is a	True	Constitutional aplastic anemia	Inferred relationship	Some
Hereditary isolated aplastic anemia	Is a	True	Constitutional aplastic anemia	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
48508019	Constitutional aplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484029012	Congenital aplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484030019	Constitutional aplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484031015	Congenital aplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759715015	Constitutional aplastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216286014	Hypoplastic anaemia - familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1217785018	Hypoplastic anemia - familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
774601000052111	konstitutionell aplastisk anemi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)