C4263996
KCNQ2 gene targeted mutation analysis
Concept
CUIC4263996
PreferredKCNQ2 gene targeted mutation analysis
Cross-maps
LOINCLP228794-6
LOINCMTHU052268
Source vocabularies
Atoms not loaded for this concept.
Related concepts
# same page, as API
GET api.autoicdapi.com/v1/reference/umls/C4263996
GET api.autoicdapi.com/v1/translate?code=C4263996&from=umls&to=snomed-ct
UMLS C4263996, plainly answered
What is UMLS code C4263996?
UMLS CUI C4263996 is "KCNQ2 gene targeted mutation analysis".
Which terminologies does UMLS C4263996 bridge?
KCNQ2 gene targeted mutation analysis (CUI C4263996) groups: 2 LOINC codes.
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 /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.