119250001: Hypogammaglobulinemia (finding)

SNOMED CT Concept\Clinical finding (finding)\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Protein level - finding\Globulin level - finding\Globulin level outside reference range (finding)\Globulin below reference range\Decreased concentration of the gamma fraction of serum globulin

\Measurement finding outside reference range\Measurement finding below reference range (finding)\Globulin below reference range\Decreased concentration of the gamma fraction of serum globulin
\Measurement finding outside reference range\Globulin level outside reference range (finding)\Globulin below reference range\Decreased concentration of the gamma fraction of serum globulin

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

2884774012 Decreased concentration of the gamma fraction of serum globulin en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

214118019 Hypogammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

452792014 Hypogammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

705893016 Hypogammaglobulinemia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1155151000005115 Hypogammaglobulinæmi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Decreased concentration of the gamma fraction of serum globulin	Is a	Gamma globulin level outside reference range	false	Inferred relationship	Some
Decreased concentration of the gamma fraction of serum globulin	Is a	reduceret proteinniveau i serum	false	Inferred relationship	Some
Decreased concentration of the gamma fraction of serum globulin	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Decreased concentration of the gamma fraction of serum globulin	Interprets	Biochemistry test interpretation (observable entity)	false	Inferred relationship	Some
Decreased concentration of the gamma fraction of serum globulin	Interprets	Laboratory test	false	Inferred relationship	Some
Decreased concentration of the gamma fraction of serum globulin	Finding method (attribute)	Procedure	false	Inferred relationship	Some
Decreased concentration of the gamma fraction of serum globulin	Interprets	Globulin measurement	true	Inferred relationship	Some	1
Decreased concentration of the gamma fraction of serum globulin	Is a	Globulin below reference range	true	Inferred relationship	Some
Decreased concentration of the gamma fraction of serum globulin	Has interpretation	Below reference range	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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 (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.	Is a	False	Decreased concentration of the gamma fraction of serum globulin	Inferred relationship	Some
Hypogammaglobulinaemia due to multiple myeloma	Is a	True	Decreased concentration of the gamma fraction of serum globulin	Inferred relationship	Some
Hypogammaglobulinaemia due to monoclonal gammopathy of undetermined significance	Is a	True	Decreased concentration of the gamma fraction of serum globulin	Inferred relationship	Some
A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.	Is a	True	Decreased concentration of the gamma fraction of serum globulin	Inferred relationship	Some
Congenital hypogammaglobulinaemia	Is a	True	Decreased concentration of the gamma fraction of serum globulin	Inferred relationship	Some

This concept is not in any reference sets