1187233008: Leukocyte adhesion deficiency (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)\Leukocyte adhesion deficiency

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\White blood cell disorder\Qualitative abnormality of granulocyte\Leukocyte adhesion deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Leukocyte adhesion deficiency
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction (disorder)\Defective phagocytic cell adhesion\Leukocyte adhesion deficiency
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Leukocyte adhesion deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Leukocyte adhesion deficiency
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Defective phagocytic cell adhesion\Leukocyte adhesion deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Leukocyte adhesion deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leukocyte adhesion deficiency	Is a	Defective phagocytic cell adhesion	true	Inferred relationship	Some
Leukocyte adhesion deficiency	Is a	Qualitative abnormality of granulocyte	true	Inferred relationship	Some
Leukocyte adhesion deficiency	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Leukocyte adhesion deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Leukocyte adhesion deficiency	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Leukocyte adhesion deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Periodontitis due to leukocyte adhesion deficiency	Due to	True	Leukocyte adhesion deficiency	Inferred relationship	Some	2
Leukocyte adhesion deficiency - type 1	Is a	True	Leukocyte adhesion deficiency	Inferred relationship	Some
Leucocyte adhesion deficiency - type 2	Is a	True	Leukocyte adhesion deficiency	Inferred relationship	Some
A form of leucocyte adhesion deficiency characterised by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in haematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive.	Is a	True	Leukocyte adhesion deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4672862019	Leucocyte adherence deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672863012	Leukocyte adherence deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672864018	Leukocyte adhesion deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672865017	Leucocyte adhesion deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672871011	Leukocyte adhesion deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5937991000241111	déficit d'adhésion leucocytaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2307131000195113	Leukozytenadhäsionsdefekt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2307141000195117	Leukozytenadhäsionsdefizit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module