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36138009: Congenital immunodeficiency disease (disorder)

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

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

\Congenital disease (disorder)\Congenital immunodeficiency disease

Status: current, 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

60302011 Congenital immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

767855015 Congenital immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

363731000052117 medfödd immunbristsjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital immunodeficiency disease	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Congenital immunodeficiency disease	Is a	Immunodeficiency disorder	true	Inferred relationship	Some
Congenital immunodeficiency disease	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Congenital immunodeficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital immunodeficiency disease	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Congenital immunodeficiency disease	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chédiak-Higashi syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Chronic granulomatous disease	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital agammaglobulinemia	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency 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
Congenital hypergammaglobulinaemia	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
kombinerad immunbristsjukdom hos Arabföl	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
X-linked lymphoproliferative 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 hematopoietic system	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Thymic aplasia or dysplasia with immunodeficiency	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Chronic granulomatous disease (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
immunbrist med multikarboxylasbrist	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
kongenital leukocytadherensdefekt	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
kongenital dysfagocytos	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Shwachman syndrome	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Vici syndrome (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)	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 (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome (disorder)	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	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 (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Immunodeficiency due to ficolin 3 deficiency (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to OX40 deficiency	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
metafyseal kondrodysplasi, McKusick-typ med associerad immunbrist	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	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 (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	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 itchy E3 ubiquitin protein ligase deficiency (disorder)	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 lymphangiectasia-lymphedema syndrome (disorder)	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 (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
60302011	Congenital immunodeficiency disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767855015	Congenital immunodeficiency disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
363731000052117	medfödd immunbristsjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)