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

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\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 of spinal region\Disorder of spinal region\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 of spinal region\Disorder of spinal region\Disorder of vertebral column\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\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 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\Disorder of back\Disorder of spinal region\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\Disorder of back\Disorder of spinal region\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\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of back\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\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 of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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\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 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\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\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\Myopathy\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\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\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 of bone development\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\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 of bone development\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of neck\Lesion of neck\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of neck\Disorder of cervical spine\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of neck\Musculoskeletal disorder of the neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of neck\Congenital anomaly of neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of back\Disorder of spinal region\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\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 of vertebral column\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Congenital fusion of spine\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Disorder of back\Disorder of spinal region\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\Congenital anomaly of skeletal bone\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Developmental disorder\Disorder of bone development\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\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 anomaly\Congenital malformation syndrome\Malformation sequence\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of neck\Congenital anomaly of cervical vertebra\Klippel-Feil sequence\Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome

Status: current, Primitive. 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 Active Case sensitive SNOMED CT core

5035188019 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder) en Fully specified name Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Finding site	Bone structure of cervical vertebra	true	Inferred relationship	Some	2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	Is a	Klippel-Feil sequence	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5035187012	Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5035188019	Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case sensitive	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	Case sensitive	SNOMED CT core