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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\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
• \Finding of back (finding)\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
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\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
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding\Finding of vertebra\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\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
• \Finding of back (finding)\Disorder of back\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
• \Finding of back (finding)\Disorder of back\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
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of back (finding)\Disorder of back\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
• \Finding of back (finding)\Disorder of back\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
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of head and neck region\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
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\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
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\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
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Lesion of neck\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Congenital anomaly of neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Finding of head and neck region\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
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Vertebral column finding\Finding of vertebra\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Bone finding\Finding of vertebra\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Bone finding\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\Bone finding\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\Bone finding\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of neck (disorder)\Lesion of neck\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of neck (disorder)\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of neck (disorder)\Congenital anomaly of neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Disorder of back\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\Disorder of back\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\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Disorder of back\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\Disorder of back\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\Disorder of back\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\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Developmental 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\Developmental 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\Developmental disorder\Developmental hereditary disorder\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Developmental disorder\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\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
• \Disease\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of neck\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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