UMLS · C · C5681527

C5681527

CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome

Concept
CUIC5681527
PreferredCCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
Cross-maps
Source vocabularies

Atoms not loaded for this concept.

# same page, as API
GET autoicdapi.com/api/v1/reference/umls/C5681527
GET autoicdapi.com/api/v1/translate?code=C5681527&from=umls&to=snomed-ct

Common questions

What is the UMLS CUI for CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome?

CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome is coded as C5681527 in UMLS.

What is UMLS code C5681527?

C5681527 is the UMLS identifier for CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome. It is included in the current NLM UMLS Metathesaurus release.

What is the SNOMED CT mapping for C5681527?

C5681527 maps to SNOMED CT 1332384001.

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.