| Metadata | |
|---|---|
| ID | DOID:10426 |
| Name | Klippel-Feil syndrome |
| Definition | A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome, http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm, http://www.wheelessonline.com/ortho/klippel_feil_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:268349005 |
| Alternateids |
DOID:14747 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
autosomal dominant Klippel-Feil syndrome [EXACT] congenital dystrophia brevicollis [EXACT] congenital synostosis of cervical vertebrae [EXACT] Klippel-Feil and Turner syndrome [EXACT] Klippel-Feil deformity, deafness and facial asymmetry [EXACT] |
| Parent Relationships |
is_a syndrome is_a physical disorder is_a spinal disease |