30575002: Fanconi's anemia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...

\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)

\anémie\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\anémie\Congenital anemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\anémie\anémie causée par une production diminuée d'érythrocytes\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)

\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\anomalie de la lignée blanche\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)

\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Platelet disorder\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)

\constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...

\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)

\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)

\Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\anémie de Fanconi (trouble)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\anémie de Fanconi (trouble)
\Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une production diminuée d'érythrocytes\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Disease\affection d'un système corporel\affection du système hématopoïétique\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\affection d'un système corporel\affection du système hématopoïétique\anomalie congénitale du système hématopoïétique\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\anémie de Fanconi (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\anémie de Fanconi (trouble)
\Disease\Congenital disease\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale du système hématopoïétique\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\Congenital disease\Congenital anemia\Constitutional aplastic anaemia\anémie de Fanconi (trouble)
\Disease\trouble du développement\Developmental hereditary disorder\anémie de Fanconi (trouble)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale du système hématopoïétique\Constitutional aplastic anaemia\anémie de Fanconi (trouble)

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
anémie de Fanconi (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
anémie de Fanconi (trouble)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	8
anémie de Fanconi (trouble)	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	7
anémie de Fanconi (trouble)	interprète (attribut)	Hemostatic function (observable entity)	false	Inferred relationship	Some	7
anémie de Fanconi (trouble)	interprète (attribut)	Hemostatic function (observable entity)	true	Inferred relationship	Some	7
anémie de Fanconi (trouble)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	Bone marrow structure	false	Inferred relationship	Some	1
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	pancytopénie	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	Congenital anemia	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	Aplastic anaemia	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est défini par la manifestation de (attribut)	Erythropenia	false	Inferred relationship	Some
anémie de Fanconi (trouble)	morphologie associée (attribut)	White blood cell abnormality	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est défini par la manifestation de (attribut)	Decreased erythrocyte production	false	Inferred relationship	Some
anémie de Fanconi (trouble)	morphologie associée (attribut)	Aplasia	false	Inferred relationship	Some	1
anémie de Fanconi (trouble)	est défini par la manifestation de (attribut)	constatation à propos des leucocytes	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est défini par la manifestation de (attribut)	Platelet count below reference range (finding)	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est défini par la manifestation de (attribut)	constatation sur le système hémostatique	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est défini par la manifestation de (attribut)	Decreased blood leukocyte number (finding)	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	affection congénitale du tissu conjonctif	false	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	Bone marrow structure	false	Inferred relationship	Some	1
anémie de Fanconi (trouble)	morphologie associée (attribut)	Aplasia	false	Inferred relationship	Some	1
anémie de Fanconi (trouble)	est un(e) (attribut)	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	syndrome familial avec prédisposition aux cancers (trouble)	true	Inferred relationship	Some
anémie de Fanconi (trouble)	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	6
anémie de Fanconi (trouble)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
anémie de Fanconi (trouble)	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	2
anémie de Fanconi (trouble)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	3
anémie de Fanconi (trouble)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	false	Inferred relationship	Some	4
anémie de Fanconi (trouble)	interprète (attribut)	Platelet count	true	Inferred relationship	Some	3
anémie de Fanconi (trouble)	interprète (attribut)	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	4
anémie de Fanconi (trouble)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	5
anémie de Fanconi (trouble)	interprète (attribut)	White blood cell count	true	Inferred relationship	Some	5
anémie de Fanconi (trouble)	est un(e) (attribut)	Congenital thrombocytopenia (disorder)	false	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	Platelet (cell structure)	false	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	Erythrocyte	false	Inferred relationship	Some
anémie de Fanconi (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	Leucocyte	false	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	Constitutional aplastic anaemia	true	Inferred relationship	Some
anémie de Fanconi (trouble)	localisation d'une constatation (attribut)	Bone marrow structure	true	Inferred relationship	Some	4
anémie de Fanconi (trouble)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
anémie de Fanconi (trouble)	morphologie associée (attribut)	Aplasia	true	Inferred relationship	Some	4
anémie de Fanconi (trouble)	interprète (attribut)	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
anémie de Fanconi (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Estren-Dameshek anaemia	est un(e) (attribut)	True	anémie de Fanconi (trouble)	Inferred relationship	Some
History of Fanconi anaemia	constatation associée (attribut)	False	anémie de Fanconi (trouble)	Inferred relationship	Some	1
History of Fanconi anaemia	constatation associée (attribut)	True	anémie de Fanconi (trouble)	Inferred relationship	Some	1

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
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
415401000241111	anémie de Fanconi (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
484638010	Fanconi's 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	Entire term 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
85031000172114	anémie de Fanconi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
985251000241113	pancytopénie de Fanconi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)