719398004: Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of tissue\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\Deformity of tissue\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\Deformity of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\...
• \Febrile disorder (disorder)\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Fever (finding)\Hyperpyrexia (finding)\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\...
• \Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Soft tissue lesion\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disorder of skeletal muscle\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of head and neck region\Finding of neck region\Deformity of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Lesion of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...
• \Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disorder of skeletal muscle\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\...
• \Febrile disorder (disorder)\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Fever (finding)\Hyperpyrexia (finding)\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Genetic disease\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Febrile disorder (disorder)\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of neck (disorder)\Lesion of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of neck (disorder)\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Lesion of skeletal muscle (disorder)\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316211011	Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316212016	Malignant hyperthermia with arthrogryposis and torticollis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316213014	Froster Iskenius Waterson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316214015	An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date with the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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