Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Wilderwanck's syndrome | Is a | False | Klippel-Feil sequence | Inferred relationship | Some | |
Klippel-Feil syndrome NOS | Is a | False | Klippel-Feil sequence | Inferred relationship | Some | |
Wildervanck syndrome | Is a | True | Klippel-Feil sequence | Inferred relationship | Some | |
A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. | Is a | True | Klippel-Feil sequence | Inferred relationship | Some |
This concept is not in any reference sets