FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

36138009: congenitale immunodeficiëntie (aandoening)

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

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

\Disorder of foetus and/or newborn\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:

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
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
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
immunodeficiëntie met holocarboxylasesynthetasedeficiëntie	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
congenitale leukocytenadhesiedeficiëntie (aandoening)	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital dysphagocytosis	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
metafysaire chondrodysplasie type McKusick met geassocieerde immunodeficiëntie	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
Combined immunodeficiency, enteropathy spectrum	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Family history of congenital immunodeficiency disease (situation)	Associated finding	True	Congenital immunodeficiency disease	Inferred relationship	Some	1
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
60303018	Congenital immunodeficiency disease, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
85471000146110	aangeboren immunodeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1000631000146116	congenitale immunodeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1000641000146112	congenitale immunodeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)