116133005: Congenital agammaglobulinemia (disorder)

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

\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital agammaglobulinemia

\Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease\Congenital agammaglobulinemia

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

178841019 Congenital agammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

419773014 Congenital agammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

675266019 Congenital agammaglobulinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4756121000241112 agammaglobulinémie congénitale 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
Congenital agammaglobulinemia	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Congenital agammaglobulinemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital agammaglobulinemia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Congenital agammaglobulinemia	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Congenital agammaglobulinemia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal agammaglobulinaemia with absent B-cells	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
Severe combined immunodeficiency due to absent lymphoid stem cells (disorder)	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
Common variable agammaglobulinemia	Is a	False	Congenital agammaglobulinemia	Inferred relationship	Some
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome	Is a	False	Congenital agammaglobulinemia	Inferred relationship	Some
X-linked agammaglobulinemia	Is a	False	Congenital agammaglobulinemia	Inferred relationship	Some
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
X-linked agammaglobulinemia with growth hormone deficiency	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
Autosomal dominant agammaglobulinaemia due to PU.1 deficiency	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some

This concept is not in any reference sets