Klippel-Feil Syndrome

Preferred Label : Klippel-Feil Syndrome;

NCIt related terms : Klippel-Feil Sequence;

NCIt definition : A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations.;

Details

Origin ID

C98967;

UMLS CUI

C0022738;

Currated CISMeF NLP mapping
- Cervical C2/C3 vertebral fusion [HPO term]
- Isolated Klippel-Feil syndrome [ORDO Disease]
- Klippel Feil syndrome [Disease (Nov.)]
- Klippel-Feil anomaly [ICD-11 Sub-sub category]
- Klippel-Feil sequence (disorder) [SNOMED CT concept]
- Klippel-Feil syndrome [ICD-10 Sub-category (who)]
- Klippel-Feil syndrome [MeSH Descriptor]
- Klippel-Feil syndrome [MedDRA Preferred Term]
- Klippel-Feil syndrome [MeSH concept]
- Klippel-Feil syndrome [ICD-10 Sub-category]
- Klippel-Feil syndrome [DO Concept]
- Klippel-Feil syndrome [PASCAL descriptor]
- Klippel-Feil syndrome [ACR pathology]
- Klippel-Feil syndrome [ICD-9 code]
- klippel-feil sequence [SNOMED Notion]
DO Cross reference
- Klippel-Feil syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cervical C2/C3 vertebral fusion [HPO term]
- Congenital dystrophia brevicollis (disorder) [SNOMED CT concept]
- Isolated Klippel-Feil syndrome [ORDO Disease]
- Klippel Feil syndrome [Disease (Nov.)]
- Klippel-Feil anomaly [ICD-11 Sub-sub category]
- Klippel-Feil sequence (disorder) [SNOMED CT concept]
- Klippel-Feil syndrome [MeSH Descriptor]
- Klippel-Feil syndrome [MedDRA Preferred Term]
- Klippel-Feil syndrome [ICD-10 Sub-category (who)]
- Klippel-Feil syndrome [MeSH concept]
- Klippel-Feil syndrome [ICD-10 Sub-category]
- Klippel-Feil syndrome [ACR pathology]
- Klippel-Feil syndrome [PASCAL descriptor]
- Klippel-Feil syndrome [DO Concept]
- Klippel-Feil syndrome [ICD-9 code]
- klippel-feil sequence [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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