111396008: Chédiak-Higashi syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Chédiak-Higashi syndrome
\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome

\White blood cell disorder\Hereditary white blood cell 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\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome

\Functional finding\Disorder of haemostatic system\Platelet disorder\...

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

\Inherited platelet disorder\Hereditary platelet function 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\Hereditary white blood cell disorder\Chédiak-Higashi syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function 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\Chédiak-Higashi syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Disorder of pigmentation\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Chédiak-Higashi syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Chédiak-Higashi syndrome
\Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Chédiak-Higashi syndrome
\Disease\Disorder of immune function\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\Disorder of immune function\White blood cell disorder\Granulocyte granule deficiency\Chédiak-Higashi syndrome
\Disease\Disorder of immune function\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Chédiak-Higashi syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Chédiak-Higashi syndrome
\Disease\Blood disease\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\Blood disease\White blood cell disorder\Granulocyte granule deficiency\Chédiak-Higashi syndrome
\Disease\Blood disease\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome
\Disease\Blood disease\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome
\Disease\Disorder of body system\Disorder of immune structure\Combined phagocytic defect\Chédiak-Higashi syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Chédiak-Higashi syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function 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\Chédiak-Higashi syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Congenital disease\Congenital anomaly\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\Developmental disorder\Developmental hereditary disorder\Albinism\Partial albinism\Chédiak-Higashi syndrome
\Disease\Developmental disorder\Congenital anomaly\Albinism\Partial albinism\Chédiak-Higashi syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1219644013 Chediak-Steinbrinck-Higashi syndrome en Synonym Active Case sensitive SNOMED CT core
178636012 Chediak-Higashi syndrome en Synonym Active Case sensitive SNOMED CT core
187778019 Hereditary gigantism of cytoplasmic organelles en Synonym Active Case insensitive SNOMED CT core
187779010 Granulation anomaly of leukocytes en Synonym Active Case insensitive SNOMED CT core
187780013 Congenital gigantism of peroxidase granules en Synonym Active Case insensitive SNOMED CT core
189415017 Beguez Cesar disease en Synonym Active Case sensitive SNOMED CT core
189416016 Chediak anomaly en Synonym Active Case sensitive SNOMED CT core
189417013 Chediak-Steinbrinck anomaly en Synonym Active Case sensitive SNOMED CT core
189418015 Chédiak-Higashi syndrome en Synonym Active Case sensitive SNOMED CT core
189419011 Chédiak anomaly en Synonym Active Case sensitive SNOMED CT core
189420017 Chédiak-Steinbrinck anomaly en Synonym Active Case sensitive SNOMED CT core
189421018 Hereditary leukomelanopathy en Synonym Active Case insensitive SNOMED CT core
189422013 Steinbrinck anomaly en Synonym Active Case sensitive SNOMED CT core
189423015 Béguez César disease en Synonym Active Case sensitive SNOMED CT core
3036739016 Chediak Higashi syndrome en Synonym Active Case sensitive SNOMED CT core
361952015 Granulation anomaly of leucocytes en Synonym Active Case insensitive SNOMED CT core
631069017 Chédiak-Higashi syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chédiak-Higashi syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Pathological process	Abnormal immune process	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	Haemostatic function	false	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Chédiak-Higashi syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Interprets	Haemostatic function	true	Inferred relationship	Some	3
Chédiak-Higashi syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Associated morphology	Congenital hypopigmentation	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	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	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Partial albinism	true	Inferred relationship	Some
Chédiak-Higashi syndrome	Has definitional manifestation	Haemostatic system finding	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Chédiak-Higashi syndrome	Associated morphology	Congenital hypopigmentation	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	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	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Finding site	Haematopoietic 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	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	Multisystem disorder C-D	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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodontitis co-occurrent with Chédiak-Higashi syndrome	Is a	False	Chédiak-Higashi syndrome	Inferred relationship	Some
Attenuated Chédiak-Higashi syndrome	Is a	True	Chédiak-Higashi syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1219644013	Chediak-Steinbrinck-Higashi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
178636012	Chediak-Higashi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
187778019	Hereditary gigantism of cytoplasmic organelles	en	Synonym	Active	Case insensitive	SNOMED CT core
187779010	Granulation anomaly of leukocytes	en	Synonym	Active	Case insensitive	SNOMED CT core
187780013	Congenital gigantism of peroxidase granules	en	Synonym	Active	Case insensitive	SNOMED CT core
189415017	Beguez Cesar disease	en	Synonym	Active	Case sensitive	SNOMED CT core
189416016	Chediak anomaly	en	Synonym	Active	Case sensitive	SNOMED CT core
189417013	Chediak-Steinbrinck anomaly	en	Synonym	Active	Case sensitive	SNOMED CT core
189418015	Chédiak-Higashi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
189419011	Chédiak anomaly	en	Synonym	Active	Case sensitive	SNOMED CT core
189420017	Chédiak-Steinbrinck anomaly	en	Synonym	Active	Case sensitive	SNOMED CT core
189421018	Hereditary leukomelanopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
189422013	Steinbrinck anomaly	en	Synonym	Active	Case sensitive	SNOMED CT core
189423015	Béguez César disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3036739016	Chediak Higashi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
361952015	Granulation anomaly of leucocytes	en	Synonym	Active	Case insensitive	SNOMED CT core
631069017	Chédiak-Higashi syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core