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
OMOP concepts

Concept Lookup Tool

Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.

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.

Get this concept via the API

Resolve Autosomal recessive hyperimmunoglobulin M syndrome due to CTNNBL1 deficiency - 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/1449225?include_relationships=true" \
  -H "Authorization: Bearer $OMOPHUB_API_KEY"
Get your free API key3,000 calls/month free · no credit card