1285021005: Fanconi anemia of complementation group C (disorder)

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

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

\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C

\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Anemia\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C

\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\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\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\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\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\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\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C

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

\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fanconi anemia of complementation group C
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Congenital disease (disorder)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Developmental disorder\Developmental hereditary disorder\Fanconi's anemia\Fanconi anemia of complementation group C
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Fanconi's anemia\Fanconi anemia of complementation group C

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5244871015 Fanconi anemia of complementation group C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244872010 Fanconi anemia of complementation group C (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244873017 Fanconi anaemia of complementation group C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244874011 Fanconi pancytopenia type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244875012 Fanconi's anaemia type C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244876013 Fanconi's anemia type C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fanconi anemia of complementation group C	Is a	Fanconi's anemia	true	Inferred relationship	Some
Fanconi anemia of complementation group C	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fanconi anemia of complementation group C	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	6
Fanconi anemia of complementation group C	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	8
Fanconi anemia of complementation group C	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Fanconi anemia of complementation group C	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Fanconi anemia of complementation group C	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Fanconi anemia of complementation group C	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Fanconi anemia of complementation group C	Interprets	Platelet count	true	Inferred relationship	Some	4
Fanconi anemia of complementation group C	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Fanconi anemia of complementation group C	Interprets	White blood cell count	true	Inferred relationship	Some	5
Fanconi anemia of complementation group C	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Fanconi anemia of complementation group C	Interprets	Hemostatic function	true	Inferred relationship	Some	7
Fanconi anemia of complementation group C	Has interpretation	Abnormal	true	Inferred relationship	Some	7
Fanconi anemia of complementation group C	Occurrence	Congenital	true	Inferred relationship	Some	1
Fanconi anemia of complementation group C	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
Fanconi anemia of complementation group C	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Fanconi anemia of complementation group C	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets