234556002: Specific antibody deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Specific antibody deficiency

\Disorder of body system\Disorder of immune structure (disorder)\Specific antibody deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

351440015 Specific antibody deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351441016 Functional antibody defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351442011 Specific immunoglobulin response defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622892010 Specific antibody deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4996601000241111 déficit en anticorps spécifiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Specific antibody deficiency	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Specific antibody deficiency	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Specific antibody deficiency	Is a	Disorder of immune structure (disorder)	true	Inferred relationship	Some
Specific antibody deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Specific antibody deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anti-polysaccharide antibody deficiency	Is a	True	Specific antibody deficiency	Inferred relationship	Some
Anti-protein antibody deficiency	Is a	True	Specific antibody deficiency	Inferred relationship	Some
Anti-staphylococcal antibody deficiency	Is a	True	Specific antibody deficiency	Inferred relationship	Some
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.	Is a	True	Specific antibody deficiency	Inferred relationship	Some
A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.	Is a	True	Specific antibody deficiency	Inferred relationship	Some

This concept is not in any reference sets