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36138009: Congenital immunodeficiency disease (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
60302011 Congenital immunodeficiency disease en Synonym Active Case insensitive SNOMED CT core
60303018 Congenital immunodeficiency disease, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

129 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital immunodeficiency disease Pathological process Abnormal immune process true Inferred relationship Some 2
Congenital immunodeficiency disease Is a Congenital disease true Inferred relationship Some
Congenital immunodeficiency disease Is a Immunodeficiency disorder true Inferred relationship Some
Congenital immunodeficiency disease Has definitional manifestation Immune system finding false Inferred relationship Some
Congenital immunodeficiency disease Finding site Structure of immune system false Inferred relationship Some
Congenital immunodeficiency disease Occurrence Congenital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital agammaglobulinaemia Is a True Congenital immunodeficiency disease Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Congenital immunodeficiency disease Inferred relationship Some
Osteopetrosis hypogammaglobulinaemia syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Monocytopenia with susceptibility to infections Is a True Congenital immunodeficiency disease Inferred relationship Some
RIDDLE syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Majeed syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Hennekam syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Leucocyte adhesion deficiency - type 2 Is a True Congenital immunodeficiency disease Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation Is a True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a True Congenital immunodeficiency disease Inferred relationship Some
Family history of congenital immunodeficiency disease Associated finding True Congenital immunodeficiency disease Inferred relationship Some 1
Thymic aplasia or dysplasia with immunodeficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Severe combined immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Some
Chronic granulomatous disease Is a True Congenital immunodeficiency disease Inferred relationship Some
Wiskott-Aldrich syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a True Congenital immunodeficiency disease Inferred relationship Some
Bloom syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Immunodeficiency with multicarboxylase deficiency Is a False Congenital immunodeficiency disease Inferred relationship Some
Congenital hypergammaglobulinaemia Is a True Congenital immunodeficiency disease Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital leucocyte adherence deficiency Is a False Congenital immunodeficiency disease Inferred relationship Some
Congenital dysphagocytosis Is a False Congenital immunodeficiency disease Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency disease in Arab foals Is a False Congenital immunodeficiency disease Inferred relationship Some
X-linked lymphoproliferative syndrome Is a False Congenital immunodeficiency disease Inferred relationship Some
Shwachman syndrome Is a False Congenital immunodeficiency disease Inferred relationship Some
Congenital neutropenia Is a True Congenital immunodeficiency disease Inferred relationship Some
Complement component deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital immunodeficiency involving the haematopoietic system Is a True Congenital immunodeficiency disease Inferred relationship Some
Chédiak-Higashi syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Chronic granulomatous disease Is a False Congenital immunodeficiency disease Inferred relationship Some
Vici syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Say Barber Miller syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Immuno-osseous dysplasia Is a True Congenital immunodeficiency disease Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome Is a False Congenital immunodeficiency disease Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Lichtenstein syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Constitutional mismatch repair deficiency syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some
Immunodeficiency due to ficolin 3 deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Congenital immunodeficiency disease Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a False Congenital immunodeficiency disease Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Congenital immunodeficiency disease Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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