1269277004: Leukocyte adhesion deficiency type 3 (disorder)

• SNOMED CT Concept\Clinical finding (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 (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \White blood cell disorder\Qualitative abnormality of granulocyte\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Defective phagocytic cell adhesion\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Defective phagocytic cell adhesion\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Leucocyte adhesion deficiency\Leukocyte adhesion deficiency type 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5197570019	Leukocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5197571015	Leukocyte adhesion deficiency type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197572010	LAD-1 (leukocyte adhesion deficiency-1) variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197573017	LAD-III - leukocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197574011	Leukocyte adhesion deficiency-1 variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197575012	LAD-1 (leucocyte adhesion deficiency-1) variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197576013	LAD-III - leucocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197577016	Leucocyte adhesion deficiency-1 variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197578014	Leucocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5197591010	Leukocyte adhesion deficiency type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197579018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197580015	A form of leukocyte adhesion deficiency characterized 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 hematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197570019	Leukocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5197571015	Leukocyte adhesion deficiency type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197572010	LAD-1 (leukocyte adhesion deficiency-1) variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197573017	LAD-III - leukocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197574011	Leukocyte adhesion deficiency-1 variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197575012	LAD-1 (leucocyte adhesion deficiency-1) variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197576013	LAD-III - leucocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197577016	Leucocyte adhesion deficiency-1 variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197578014	Leucocyte adhesion deficiency type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5197591010	Leukocyte adhesion deficiency type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5197579018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5197580015	A form of leukocyte adhesion deficiency characterized 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 hematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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