267460002: Congenital 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\Congenital hypogammaglobulinaemia

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

398903019 Congenital hypogammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

398904013 Congenital hypogammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

660080016 Congenital hypogammaglobulinemia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1155121000005110 Kongenit 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
Congenital hypogammaglobulinaemia	Is a	Deficiency of gamma globulin.	false	Inferred relationship	Some
Congenital hypogammaglobulinaemia	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some	1
Congenital hypogammaglobulinaemia	Interprets	Biochemistry test interpretation (observable entity)	false	Inferred relationship	Some
Congenital hypogammaglobulinaemia	Interprets	Laboratory test	false	Inferred relationship	Some
Congenital hypogammaglobulinaemia	Finding method (attribute)	Procedure	false	Inferred relationship	Some
Congenital hypogammaglobulinaemia	Interprets	Globulin measurement	false	Inferred relationship	Some	2
Congenital hypogammaglobulinaemia	Interprets	Globulin measurement	true	Inferred relationship	Some	1
Congenital hypogammaglobulinaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital hypogammaglobulinaemia	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital hypogammaglobulinaemia	Is a	Decreased concentration of the gamma fraction of serum globulin	true	Inferred relationship	Some

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	True	Congenital hypogammaglobulinaemia	Inferred relationship	Some

This concept is not in any reference sets