720520009: Attenuated Chédiak-Higashi syndrome (disorder)

• 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
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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