1174000008: Congenital generalized hypercontractile muscle stiffness syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Disease\Genetic disease\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital generalized hypercontractile muscle stiffness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4639198017	Congenital generalised hypercontractile muscle stiffness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4639199013	Congenital generalized hypercontractile muscle stiffness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399444012	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399445013	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4639195019	Congenital generalized hypercontractile muscle stiffness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4639198017	Congenital generalised hypercontractile muscle stiffness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4639199013	Congenital generalized hypercontractile muscle stiffness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399444012	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399445013	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426681001000118	Syndrom der kongenitalen generalisierten hyperkontraktilen Muskelsteifheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837781000241116	syndrome congénital de rigidité musculaire généralisée avec hypercontractilité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5837781000241116	syndrome congénital de rigidité musculaire généralisée avec hypercontractilité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426681001000118	Syndrom der kongenitalen generalisierten hyperkontraktilen Muskelsteifheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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