111396008: syndrome de Chediak-Higashi (trouble)

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)\Chédiak-Higashi syndrome
\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome

\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\anomalie de la lignée blanche\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome
\anomalie de la lignée blanche\Granulocyte granule deficiency\Chédiak-Higashi syndrome
\anomalie de la lignée blanche\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome

\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome

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

\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome

\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\trouble de la pigmentation\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Phagocytic cell defect\Phagocytic cell dysfunction\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Chédiak-Higashi syndrome
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Granulocyte granule deficiency\Chédiak-Higashi syndrome
\Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Granulocyte granule deficiency\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\affection d'un système corporel\Disorder of immune structure (disorder)\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\trouble métabolique\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Congenital disease\Congenital malformation\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Congenital disease\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Chédiak-Higashi syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\trouble du développement\Congenital malformation\Albinism\Partial albinism\Chédiak-Higashi syndrome

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
Chédiak-Higashi syndrome	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Chédiak-Higashi syndrome	morphologie associée (attribut)	Hypopigmentation	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	a pour interprétation (attribut)	anormal	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	interprète (attribut)	Hemostatic function (observable entity)	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Chédiak-Higashi syndrome	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	3
Chédiak-Higashi syndrome	interprète (attribut)	Hemostatic function (observable entity)	true	Inferred relationship	Some	3
Chédiak-Higashi syndrome	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Chédiak-Higashi syndrome	morphologie associée (attribut)	White blood cell abnormality	false	Inferred relationship	Some
Chédiak-Higashi syndrome	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	2
Chédiak-Higashi syndrome	morphologie associée (attribut)	Decreased melanin pigmentation	false	Inferred relationship	Some
Chédiak-Higashi syndrome	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	structure du système immunitaire	true	Inferred relationship	Some	4
Chédiak-Higashi syndrome	est défini par la manifestation de (attribut)	constatation à propos des leucocytes	false	Inferred relationship	Some
Chédiak-Higashi syndrome	est défini par la manifestation de (attribut)	constatation à propos des plaquettes	false	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Partial albinism	true	Inferred relationship	Some
Chédiak-Higashi syndrome	est défini par la manifestation de (attribut)	constatation sur le système hémostatique	false	Inferred relationship	Some
Chédiak-Higashi syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	morphologie associée (attribut)	Congenital hypopigmentation	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Chédiak-Higashi syndrome	morphologie associée (attribut)	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Chédiak-Higashi syndrome	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	Platelet (cell structure)	false	Inferred relationship	Some
Chédiak-Higashi syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some	2
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some
Chédiak-Higashi syndrome	morphologie associée (attribut)	Congenital deficiency	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	structure du système hématopoïétique	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	Leucocyte	false	Inferred relationship	Some
Chédiak-Higashi syndrome	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	est un(e) (attribut)	anomalie congénitale du système hématopoïétique	false	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Multisystem disorder C-D (navigational concept)	false	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Congenital immunodeficiency disease	true	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Hereditary disorder of immune system	false	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	albinisme oculo-cutané type 2 (trouble)	false	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Granulocyte granule deficiency	true	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Chemotactic disorder	true	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Combined phagocytic defect	true	Inferred relationship	Some
Chédiak-Higashi syndrome	est un(e) (attribut)	Dense body defect	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodontitis co-occurrent with Chédiak-Higashi syndrome	est un(e) (attribut)	False	Chédiak-Higashi syndrome	Inferred relationship	Some
Attenuated Chédiak-Higashi syndrome (disorder)	est un(e) (attribut)	True	Chédiak-Higashi syndrome	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
1219644013	Chediak-Steinbrinck-Higashi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
178636012	Chediak-Higashi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
187778019	Hereditary gigantism of cytoplasmic organelles	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
187779010	Granulation anomaly of leukocytes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
187780013	Congenital gigantism of peroxidase granules	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
189415017	Beguez Cesar disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
189416016	Chediak anomaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
189417013	Chediak-Steinbrinck anomaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
189418015	Chédiak-Higashi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
189419011	Chédiak anomaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
189420017	Chédiak-Steinbrinck anomaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
189421018	Hereditary leukomelanopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
189422013	Steinbrinck anomaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
189423015	Béguez César disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3036739016	Chediak Higashi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
361952015	Granulation anomaly of leucocytes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
631069017	Chédiak-Higashi syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
694251000077113	syndrome de Chediak-Higashi (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
71781000077112	syndrome de Chediak-Higashi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
872041000172119	maladie de Chédiak-Higashi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
901231000172112	syndrome de Chédiak-Higashi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)