UMLS · G · C0804474

C0804474

Gauchers disease type 3 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen

# same page, as API
GET autoicdapi.com/api/v1/reference/umls/C0804474
GET autoicdapi.com/api/v1/translate?code=C0804474&from=umls&to=snomed-ct

Common questions

What is the UMLS CUI for Gauchers disease type 3 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen?

Gauchers disease type 3 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen is coded as C0804474 in UMLS.

What is UMLS code C0804474?

C0804474 is the UMLS identifier for Gauchers disease type 3 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen. It is included in the current NLM UMLS Metathesaurus release.

What is the LOINC mapping for C0804474?

C0804474 maps to LOINC 21684-6.

UMLS, plainly answered

What is UMLS?
The Unified Medical Language System is the NLM's meta-terminology that unifies SNOMED CT, ICD-10, ICD-11, RxNorm, LOINC, MeSH, and around 200 other source vocabularies under a single concept identifier (CUI). One UMLS CUI can group dozens of synonymous codes from different terminologies.
What is a CUI and why does it matter?
A CUI is a stable identifier (like C0011860) that points at a single clinical idea regardless of how that idea is encoded in any specific vocabulary. CUIs are the most reliable way to bridge between terminologies when you need to compare or merge data from multiple sources.
How does UMLS help with cross-mapping?
Every UMLS concept page lists the codes it groups together. That gives you a free crosswalk: a SNOMED concept and an ICD-10 code that share a CUI describe the same clinical idea. Our cross_references API returns these groupings inline.
Is the API free to use?
Browsing the directory is free. Programmatic /api/v1/reference/umls/* access needs an API key. Production volume requires a paid tier.
How fresh is the UMLS data?
We track NLM's twice-yearly releases (May AB and November AB). Each release brings new concepts, retirements, and atom updates from the source vocabularies, and our index reflects them within the same week.
Do I need a UMLS license?
Yes. The UMLS Metathesaurus License Agreement is free but requires an NLM UTS account. Customers in production need their own license. Free-tier evaluation use is permitted under the standard terms.