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30575002: Fanconi's anemia (disorder)

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

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

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

\Anaemia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia\Fanconi's anemia
\Anaemia\Congenital anemia\Constitutional aplastic anaemia\Fanconi's anemia
\Anaemia\Anemia due to decreased red cell production (disorder)\Aplastic anaemia\Constitutional aplastic anaemia\Fanconi's anemia

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

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

\Procedure related finding\Evaluation finding\...

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

\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia\Fanconi's anemia
\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia\Fanconi's anemia

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fanconi's anemia	Is a	Pancytopenia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Congenital anemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Aplastic anaemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Platelet (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Leucocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Bone marrow structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fanconi's anemia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fanconi's anemia	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Has definitional manifestation	Hemostatic system finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Has definitional manifestation	Decreased blood leukocyte number	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Bone marrow structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fanconi's anemia	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fanconi's anemia	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Fanconi's anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fanconi's anemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fanconi's anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Fanconi's anemia	Has interpretation	Below reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Fanconi's anemia	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Fanconi's anemia	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Fanconi's anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Fanconi's anemia	Interprets	White blood cell count (procedure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Fanconi's anemia	Is a	Congenital thrombocytopaenia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	Constitutional aplastic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Finding site	Bone marrow structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Fanconi's anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fanconi's anemia	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Fanconi's anemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fanconi's anemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Fanconi's anemia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Fanconi's anemia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Fanconi's anemia	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Fanconi's anemia	Interprets	Hemostatic function	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Fanconi's anemia	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Fanconi's anemia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Estren-Dameshek anaemia	Is a	True	Fanconi's anemia	Inferred relationship	Existential restriction modifier (core metadata concept)
History of Fanconi anemia	Associated finding	False	Fanconi's anemia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
History of Fanconi anemia	Associated finding	True	Fanconi's anemia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fanconi anemia of complementation group C	Is a	True	Fanconi's anemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
51176012	Fanconi pancytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
51177015	Fanconi's anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
51178013	Pancytopenia-dysmelia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484638010	Fanconi's anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
761594015	Fanconi's anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216339013	Fanconi's hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216340010	Fanconi's familial refractory anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217839012	Fanconi's hypoplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217840014	Fanconi's familial refractory anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2838906010	Fanconi anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3781775014	Fanconi anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
51176012	Fanconi pancytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
51177015	Fanconi's anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
51178013	Pancytopenia-dysmelia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
51178013	Pancytopenia-dysmelia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484638010	Fanconi's anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484638010	Fanconi's anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
761594015	Fanconi's anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
761594015	Fanconi's anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216339013	Fanconi's hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216339013	Fanconi's hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216340010	Fanconi's familial refractory anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216340010	Fanconi's familial refractory anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217839012	Fanconi's hypoplastic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217839012	Fanconi's hypoplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217840014	Fanconi's familial refractory anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217840014	Fanconi's familial refractory anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2838906010	Fanconi anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3781775014	Fanconi anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3454631001000112	Fanconi-Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
85031000172114	anémie de Fanconi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
985251000241113	pancytopénie de Fanconi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
85031000172114	anémie de Fanconi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
985251000241113	pancytopénie de Fanconi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454631001000112	Fanconi-Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module