720520009: milde vorm van syndroom van Chédiak-Higashi (aandoening)

• 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)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \White blood cell disorder\Granulocyte granule deficiency\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \White blood cell disorder\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 (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of pigmentation (disorder)\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Granulocyte granule deficiency\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Granulocyte granule deficiency\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Combined phagocytic defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome\Attenuated Chédiak-Higashi syndrome (disorder)
• \Disease\Developmental disorder\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
6098571000146118	milde vorm van syndroom van Chédiak-Higashi	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6098581000146116	milde vorm van syndroom van Chédiak-Higashi (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6098591000146119	milde vorm van syndroom van Chediak-Steinbrinck-Higashi	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained 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

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