1174000008: Congenital generalized hypercontractile muscle stiffness syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital generalised hypercontractile muscle stiffness syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalised hypercontractile muscle stiffness syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital generalised hypercontractile muscle stiffness syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalised hypercontractile muscle stiffness syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalised hypercontractile muscle stiffness syndrome
• \Disease\Genetic disease\Congenital generalised hypercontractile muscle stiffness syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalised hypercontractile muscle stiffness syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalised hypercontractile muscle stiffness syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital generalised hypercontractile muscle stiffness syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalised hypercontractile muscle stiffness syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital generalised hypercontractile muscle stiffness syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital generalised hypercontractile muscle stiffness syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4639195019	Congenital generalized hypercontractile muscle stiffness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4639198017	Congenital generalised hypercontractile muscle stiffness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4639199013	Congenital generalized hypercontractile muscle stiffness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4639196018	A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.	en	Definition	Active	Case sensitive	SNOMED CT core
4639197010	A rare defect of tropomyosin characterised by decreased fetal movements and generalised muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxaemia. Muscle biopsy shows mild myopathic features.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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