720520009: syndrome de Chédiak-Higashi atténué (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\Attenuated Chédiak-Higashi syndrome (disorder)
• \troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \anomalie de la lignée blanche\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \anomalie de la lignée blanche\Granulocyte granule deficiency\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \anomalie de la lignée blanche\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble de la pigmentation\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Granulocyte granule deficiency\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Granulocyte granule deficiency\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of immune structure (disorder)\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \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\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Congenital disease\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321117015	Attenuated Chédiak-Higashi syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321118013	Attenuated Chédiak-Higashi syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321119017	Atypical Chédiak-Higashi syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755551000241114	syndrome de Chédiak-Higashi atténué (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
916181000172114	syndrome de Chédiak-Higashi atténué	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
963321000172115	syndrome de Chédiak-Higashi atypique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3321120011	A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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