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

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Deformity\Congenital deformity\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Deformity\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Finding of movement\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
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\General finding of soft tissue\Disorder of soft tissue\...

\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Soft tissue lesion\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Disorder of skeletal muscle\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis 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\Malignant hyperthermia with arthrogryposis and torticollis 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\Malignant hyperthermia with arthrogryposis and torticollis 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\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Finding of head and neck region\Finding of neck region\Deformity of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Lesion of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\General finding of observation of patient\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\General finding of observation of patient\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Fever\Hyperpyrexia\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\General finding of observation of patient\General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Febrile disorder\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\General finding of observation of patient\General body state finding\Vital signs finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range\Fever\Hyperpyrexia\Malignant hyperthermia\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\...

\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Disorder of skeletal muscle\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Febrile disorder\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\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
\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
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of neck\Lesion of neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of neck\Musculoskeletal disorder of the neck\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of neck\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Lesion of skeletal muscle\Muscle contracture\Torticollis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Malignant hyperthermia with arthrogryposis and torticollis syndrome
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of neck\Malignant hyperthermia with arthrogryposis and torticollis syndrome

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

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 SNOMED CT core module

3316212016 Malignant hyperthermia with arthrogryposis and torticollis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3316213014 Froster Iskenius Waterson syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Torticollis	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Arthrogryposis	false	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Malignant hyperthermia	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Interprets	Body temperature	false	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	6
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Finding site	Skeletal muscle structure of neck	false	Inferred relationship	Existential restriction modifier	6
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	4
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	4
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Interprets	Body temperature	true	Inferred relationship	Existential restriction modifier	3
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	2
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	4
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Congenital anomaly of neck	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Finding site	Skeletal muscle structure of neck	true	Inferred relationship	Existential restriction modifier	2
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	4
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Febrile disorder	true	Inferred relationship	Existential restriction modifier
Malignant hyperthermia with arthrogryposis and torticollis syndrome	Is a	Congenital deformity of soft tissue	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3316212016	Malignant hyperthermia with arthrogryposis and torticollis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316213014	Froster Iskenius Waterson syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module