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

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\déformation du cou\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Deformity (finding)\contracture musculaire (trouble)\Torticollis\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)
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\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)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\...
• \Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \lésion de tissu mou\contracture musculaire (trouble)\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \affection d'un muscle squelettique\contracture musculaire (trouble)\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\Lesion of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\déformation du cou\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\anomalie congénitale du cou\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation générale à propos de l'observation du patient\constatation associée à la température\Body temperature finding\Abnormal body temperature\Body temperature above reference range\trouble caractérisé par de la fièvre\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation générale à propos de l'observation du patient\constatation associée à la température\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Fever\Hyperpyrexia (finding)\Malignant hyperthermia (finding)\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation générale à propos de l'observation du patient\constatation à propos de l'état physique général\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\trouble caractérisé par de la fièvre\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation générale à propos de l'observation du patient\constatation à propos de l'état physique général\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Fever\Hyperpyrexia (finding)\Malignant hyperthermia (finding)\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\...
• \Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \contracture musculaire (trouble)\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \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)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \affection d'un muscle squelettique\contracture musculaire (trouble)\Torticollis\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)
• \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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\trouble caractérisé par de la fièvre\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\contracture musculaire (trouble)\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \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\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\contracture musculaire (trouble)\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection du cou\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection du cou\anomalie congénitale du cou\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\affection de la tête\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\affection de la tête\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\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Congenital disease\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\Congenital disease\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\Congenital disease\Congenital malformation\anomalie congénitale du cou\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\lésion de tissu mou\contracture musculaire (trouble)\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\contracture musculaire (trouble)\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
• \Disease\trouble du développement\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\trouble du développement\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\trouble du développement\Congenital malformation\anomalie congénitale du cou\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

Canada English language reference set (foundation metadata concept)

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US English

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