116133005: Congenital agammaglobulinemia (disorder)

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

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\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

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
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
X-linked agammaglobulinemia with growth hormone deficiency	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
Isolated agammaglobulinaemia	Is a	True	Congenital agammaglobulinemia	Inferred relationship	Some
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)	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