111396008: Chédiak-Higashi-syndroom (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
\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

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

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

\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

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome
\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
\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
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Disorder of pigmentation (disorder)\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Chédiak-Higashi syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Granulocyte granule deficiency\Chédiak-Higashi syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Chédiak-Higashi syndrome
\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
\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
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Granulocyte granule deficiency\Chédiak-Higashi syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome
\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
\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
\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
\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
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Combined phagocytic defect\Chédiak-Higashi syndrome
\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
\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Developmental disorder\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	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Multisystem disorder C-D (navigational concept)	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Tyrosinase-positive oculocutaneous albinism	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Granulocyte granule deficiency	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Chemotactic disorder	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Combined phagocytic defect	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Dense body defect	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Platelet	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Chédiak-Higashi syndrome	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Leucocyte	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Eye structure	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	2
Chédiak-Higashi syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	4
Chédiak-Higashi syndrome	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Has definitional manifestation	Platelet finding	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Partial albinism	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Chédiak-Higashi syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	2
Chédiak-Higashi syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
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	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Interprets	Hemostatic function	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Chédiak-Higashi syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Interprets	Hemostatic function	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
parodontitis gelijktijdig met syndroom van Chédiak-Higashi (aandoening)	Is a	False	Chédiak-Higashi syndrome	Inferred relationship	Some
Attenuated Chédiak-Higashi syndrome (disorder)	Is a	True	Chédiak-Higashi syndrome	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
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
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
1219644013	Chediak-Steinbrinck-Higashi syndrome	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
364111000146112	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)
10662941000146119	Chédiak-Higashi-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10662951000146116	Chédiak-Higashi-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12505591000146111	ziekte 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)
13083621000146115	Erfelijk syndroom bij kinderen gekenmerkt door onder meer gevoeligheid voor licht, ontbreken van pigment, zwelling van de lymfeklieren, afwijkingen in het bloed, zwelling van de lever en milt en sterke vatbaarheid voor infecties.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)