OMOP Concept 4263109
Congenital immunodeficiency disease
StandardConditionSNOMED36138009Disorder
Maps from
2
Descendants
141
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
2 source codes normalize to Congenital immunodeficiency disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 143889 | Congenital Immunodeficiency Disease | Non-standard |
| Nebraska Lexicon | 36138009 | Congenital immunodeficiency disease | Non-standard |
Synonyms
Alternative names recorded for Congenital immunodeficiency disease across source vocabularies.
- Congenital immunodeficiency disease (disorder)
- inmunodeficiencia congénita
- inmunodeficiencia congénita (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(6)Roll up to these when you need a wider cohort.
Narrower concepts
(141)Included automatically when you query with descendants.
- 1Absent thumb with short stature and immunodeficiency syndrome
- 1Anhidrotic ectodermal dysplasia with immune deficiency
- 1Ataxia-telangiectasia syndrome
- 1Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
- 1Autosomal recessive combined immunodeficiency disease
- 1Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
- 1Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
- 1Autosomal recessive combined immunodeficiency due to WIP deficiency
- 1Autosomal recessive combined immunodeficiency with multiple intestinal atresias
- 1Bloom syndrome
- 1Chédiak-Higashi syndrome
- 1Chronic granulomatous disease
- 1Combined immunodeficiency due to OX40 deficiency
- 1Combined immunodeficiency, enteropathy spectrum
- 1Combined immunodeficiency with faciooculoskeletal anomalies syndrome
- 1Complement component deficiency
- 1Congenital agammaglobulinemia
- 1Congenital hypergammaglobulinemia
- 1Congenital immunodeficiency involving the hematopoietic system
- 1Congenital neutropenia
- 1Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
- 1Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome
- 1Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
- 1Hennekam syndrome
- 1Hypopigmentation-immunodeficiency disease
- 1Immunodeficiency due to ficolin 3 deficiency
- 1Immuno-osseous dysplasia
- 1Leukocyte adhesion deficiency - type 2
- 1Lichtenstein syndrome
- 1Majeed syndrome
- 1Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
- 1Monocytopenia with susceptibility to infections
- 1Netherton syndrome
- 1Osteopetrosis hypogammaglobulinemia syndrome
- 1PGM3-related congenital disorder of glycosylation
- 1Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
- 1Purine-nucleoside phosphorylase deficiency
- 1RIDDLE syndrome
- 1Severe combined immunodeficiency disease
- 1Severe dermatitis, multiple allergies, metabolic wasting syndrome
- 1Sterile multifocal osteomyelitis with periostitis and pustulosis
- 1Syndromic multisystem autoimmune disease due to ITCH deficiency
- 1Thymic aplasia or dysplasia with immunodeficiency
- 1Vici syndrome
- 1Wiskott-Aldrich syndrome
- 1X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome
- 2Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
- 2Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
- 2Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation
- 2Attenuated Chédiak-Higashi syndrome
Get this concept via the API
Resolve Congenital immunodeficiency disease - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/4263109?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card