1217225001: Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Vertebral column finding\résultat concernant une vertèbre\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\Finding of spinal region\Finding of cervical spine\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\Lesion of neck\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\anomalie congénitale du cou\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\Finding of cervical spine\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Vertebral column finding\affection du rachis\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Vertebral column finding\affection du rachis\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Vertebral column finding\résultat concernant une vertèbre\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\constatation à propos de l'os\résultat concernant une vertèbre\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Genetic disease\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du cou\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du cou\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du cou\anomalie congénitale du cou\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale du cou\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale du cou\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5035187012	Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035188019	Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035189010	A rare genetic disease with 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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