720520009: Attenuated Chédiak-Higashi syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Chédiak-Higashi syndrome\Attenuated 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\Attenuated Chédiak-Higashi syndrome

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

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

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3321117015 Attenuated Chédiak-Higashi syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3321118013 Attenuated Chédiak-Higashi syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3321119017 Atypical Chédiak-Higashi syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Attenuated Chédiak-Higashi syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Attenuated Chédiak-Higashi syndrome	Is a	Chédiak-Higashi syndrome	true	Inferred relationship	Existential restriction modifier
Attenuated Chédiak-Higashi syndrome	Finding site	Structure of immune system	false	Inferred relationship	Existential restriction modifier
Attenuated Chédiak-Higashi syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Attenuated Chédiak-Higashi syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	4
Attenuated Chédiak-Higashi syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Attenuated Chédiak-Higashi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Attenuated Chédiak-Higashi syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	4
Attenuated Chédiak-Higashi syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	5
Attenuated Chédiak-Higashi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Attenuated Chédiak-Higashi syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Attenuated Chédiak-Higashi syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Attenuated Chédiak-Higashi syndrome	Finding site	Structure of immune system	true	Inferred relationship	Existential restriction modifier	1
Attenuated Chédiak-Higashi syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	2
Attenuated Chédiak-Higashi syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	2
Attenuated Chédiak-Higashi syndrome	Interprets	Hemostatic function	false	Inferred relationship	Existential restriction modifier	3
Attenuated Chédiak-Higashi syndrome	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	3
Attenuated Chédiak-Higashi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Attenuated Chédiak-Higashi syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Attenuated Chédiak-Higashi syndrome	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321117015	Attenuated Chédiak-Higashi syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3321118013	Attenuated Chédiak-Higashi syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3321119017	Atypical Chédiak-Higashi syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module