Klippel-Feil syndrome

Preferred Label : Klippel-Feil syndrome;

MeSH definition : A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.;

MeSH synonym : dystrophia brevicollis congenita; dystrophia brevicollis congenitas; syndrome, klippel-feil; klippel feil syndrome; vertebral cervical fusion syndrome; Klippel-Feil sequence; cervical fusion syndrome;

CISMeF synonym : Klippel-Feil's syndrome;

MeSH annotation : short neck as result of vertebral abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Details

Origin ID

D007714;

UMLS CUI

C0022738;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital dystrophia brevicollis (disorder) [SNOMED CT concept]
- Klippel-feil syndrome [OMIM phenotypic series]
- Klippel-feil syndrome 1, autosomal dominant [OMIM Phenotype]
Currated CISMeF NLP mapping
- Cervical C2/C3 vertebral fusion [HPO term]
- Isolated Klippel-Feil syndrome [ORDO Disease]
- Klippel Feil syndrome [Disease (Nov.)]
- Klippel-Feil Syndrome [NCIt concept]
- Klippel-Feil anomaly [ICD-11 Sub-sub category]
- Klippel-Feil sequence (disorder) [SNOMED CT concept]
- Klippel-Feil syndrome [ACR pathology]
- Klippel-Feil syndrome [PASCAL descriptor]
- Klippel-Feil syndrome [ICD-10 Sub-category]
- Klippel-Feil syndrome [DO Concept]
- Klippel-Feil syndrome [ICD-10 Sub-category (who)]
- Klippel-Feil syndrome [MedDRA Preferred Term]
- Klippel-Feil syndrome [ICD-9 code]
- klippel-feil sequence [SNOMED Notion]
DO Cross reference
- Klippel-Feil syndrome [DO Concept]
HPO term
- Cervical C2/C3 vertebral fusion [HPO term]
Manual NTBT mappings (CISMeF)
- Dysostosis with predominant vertebral and costal involvement [ORDO Disease]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
Record concept(s)
- Klippel-Feil syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- calabro syndrome [MeSH Supplementary Concept]
- klippel feil syndrome dominant type [MeSH Supplementary Concept]
- klippel feil syndrome recessive type [MeSH Supplementary Concept]
- segmentation syndrome 1 [MeSH Supplementary 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 Syndrome [NCIt concept]
- Klippel-Feil anomaly [ICD-11 Sub-sub category]
- Klippel-Feil sequence (disorder) [SNOMED CT concept]
- Klippel-Feil syndrome [ICD-10 Sub-category]
- Klippel-Feil syndrome [ACR pathology]
- Klippel-Feil syndrome [MedDRA Preferred Term]
- Klippel-Feil syndrome [ICD-10 Sub-category (who)]
- Klippel-Feil syndrome [DO Concept]
- Klippel-Feil syndrome [ICD-9 code]
- Klippel-Feil syndrome [PASCAL descriptor]
- klippel-feil sequence [SNOMED Notion]

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