28975000: Constitutional aplastic anemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Finding of white blood cell number\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Constitutional aplastic anemia
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Anemia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Anemia\Congenital anemia\Constitutional aplastic anemia
\Anemia\Anemia due to decreased red cell production\Aplastic anemia\Constitutional aplastic anemia

\White blood cell disorder\Leukopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia

\Platelet disorder\Thrombocytopenic disorder\...

\Congenital thrombocytopenia\Constitutional aplastic anemia

\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia

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

\Congenital thrombocytopenia\Constitutional aplastic anemia

\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia

\Disease\Disorder of immune function\White blood cell disorder\Leukopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of immune function\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood\Anemia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to decreased red cell production\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood\White blood cell disorder\Leukopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Constitutional aplastic anemia
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Constitutional aplastic anemia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of body system\Disorder of hematopoietic structure\Bone marrow disorder\Aplastic anemia\Constitutional aplastic anemia
\Disease\Disorder of body system\Disorder of hematopoietic structure\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia
\Disease\Congenital disease\Congenital thrombocytopenia\Constitutional aplastic anemia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia
\Disease\Congenital disease\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. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

48508019 Constitutional aplastic anemia en Synonym Active Entire term case insensitive SNOMED CT core module

484029012 Congenital aplastic anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

484030019 Constitutional aplastic anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

484031015 Congenital aplastic anemia en Synonym Active Entire term case insensitive SNOMED CT core module

759715015 Constitutional aplastic anemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1216286014 Hypoplastic anaemia - familial en Synonym Active Entire term case insensitive SNOMED CT core module

1217785018 Hypoplastic anemia - familial en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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

This concept is not in any reference sets

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