OMOP Concept 1449225
Autosomal recessive hyperimmunoglobulin M syndrome due to CTNNBL1 deficiency
StandardConditionSNOMED1351575008Disorder
Maps from
0
Descendants
0
Valid from
1 Nov 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autosomal recessive hyperimmunoglobulin M syndrome due to CTNNBL1 deficiency across source vocabularies.
- Autosomal recessive hyperimmunoglobulin M syndrome due to catenin beta like 1deficiency
- Autosomal recessive hyperimmunoglobulin M syndrome due to catenin beta like 1deficiency (disorder)
- Hyper IgM syndrome due to CTNNBL1
- síndrome de hiperinmunoglobulina M autosómico recesivo debido a deficiencia de CTNNBL1
- síndrome de hiperinmunoglobulina M autosómico recesivo debido a deficiencia de proteína similar a catenina beta 1
- síndrome de hiperinmunoglobulina M autosómico recesivo debido a deficiencia de proteína similar a catenina beta 1 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(11)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hyperimmunoglobulin M syndrome
- 2Autosomal recessive hereditary disorder
- 2Hyperimmunoglobulin M syndrome
- 3Autosomal hereditary disorder
- 3Primary immune deficiency disorder
- 4Hereditary disease
- 4Immunodeficiency disorder
- 5Disorder of immune function
- 5Genetic disease
- 6Disease
- 7Clinical finding
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