414395005: Hereditary white blood cell disorder (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)

\White blood cell disorder\Hereditary white blood cell disorder (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2530856015 Hereditary white blood cell disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2534321015 Hereditary white blood cell disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
371641000052113 ärftlig leukocytsjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary white blood cell disorder (disorder)	Is a	Hereditary disorder of cellular element of blood (disorder)	true	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Is a	White blood cell disorder	true	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	1
Hereditary white blood cell disorder (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Hereditary white blood cell disorder (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
May Hegglins syndrom	Is a	False	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Hereditary eosinophilia	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Chronic granulomatous disease (disorder)	Is a	False	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Hereditary hypersegmentation	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Reticular dysgenesis	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Heritable disorder of neutrophil production (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Heritable disorder of neutrophil function (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Fanconi's anemia	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Shwachman syndrome	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
parodontit samtidig med infantil genetisk agranulocytos	Is a	False	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Revesz syndrome (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
WT limb blood syndrome (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Ataxia pancytopenia syndrome	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Poikiloderma with neutropenia	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Pancytopenia with developmental delay syndrome	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Hereditary isolated aplastic anemia	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Hereditary neutrophilia (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Onycho-tricho-dysplasia neutropenia syndrome	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Combined immunodeficiency, enteropathy spectrum	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Warts, hypogammaglobulinaemia, infections, and myelokathexis	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Leukocyte adhesion deficiency	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some
Glutathione synthetase deficiency	Is a	True	Hereditary white blood cell disorder (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2530856015	Hereditary white blood cell disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2534321015	Hereditary white blood cell disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
371641000052113	ärftlig leukocytsjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)