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\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

\White blood cell disorder (disorder)\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\White blood cell disorder (disorder)\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\White blood cell disorder (disorder)\Granulocyte granule deficiency\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\White blood cell disorder (disorder)\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

\Platelet disorder (disorder)\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Platelet disorder (disorder)\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

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

\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative 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\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative 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\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of pigmentation (disorder)\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative 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\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of immune function (disorder)\White blood cell disorder (disorder)\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of immune function (disorder)\White blood cell disorder (disorder)\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of immune function (disorder)\White blood cell disorder (disorder)\Granulocyte granule deficiency\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of immune function (disorder)\White blood cell disorder (disorder)\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative 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\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder (disorder)\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder (disorder)\Qualitative abnormality of granulocyte\Combined phagocytic defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder (disorder)\Granulocyte granule deficiency\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder (disorder)\Non-malignant white cell disorder\Chemotactic disorder\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder (disorder)\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder (disorder)\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of hemostatic system\Platelet disorder (disorder)\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of hemostatic system\Platelet disorder (disorder)\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Combined phagocytic defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative 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\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative 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\Platelet storage pool defect\Dense body defect\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
\Disease\Developmental disorder\Congenital malformation\Albinism\Partial albinism (disorder)\Chédiak-Higashi syndrome\A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative 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

5402391017 A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402392012 A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterised by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Is a	Chédiak-Higashi syndrome	true	Inferred relationship	Some
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	4
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Occurrence	Congenital	true	Inferred relationship	Some	4
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Occurrence	Congenital	false	Inferred relationship	Some	5
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Associated morphology	Kongenit hypopigmentering	false	Inferred relationship	Some	4
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	5
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Occurrence	Congenital	false	Inferred relationship	Some	2
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Interprets	Haemostatic function	false	Inferred relationship	Some	3
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Has interpretation	Abnormal	false	Inferred relationship	Some	3
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Has interpretation	Abnormal	true	Inferred relationship	Some	3
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Interprets	Haemostatic function	true	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
5402391017	A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402392012	A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterised by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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