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Metadata
DOID DOID:10426
Name Klippel-Feil syndrome
Definition A physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
http://emedicine.medscape.com/article/1264848-overview, http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome, http://www.healthline.com/galecontent/klippel-feil-syndrome, http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm, http://www.wheelessonline.com/ortho/klippel_feil_syndrome
Xrefs

GARD:10280

ICD10CM:Q76.1

ICD9CM:756.16

MESH:D007714

NCI:C98967

OMIM:118100

OMIM:214300

OMIM:613702

ORDO:2345

SNOMEDCT_US_2018_03_01:5601008

UMLS_CUI:C0022738

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]

Relationships

is_a physical disorder

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