1197153000: Typical nemaline myopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Finding of power of skeletal muscle (finding)\Muscle weakness\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Muscle finding (finding)\Finding of power of skeletal muscle (finding)\Muscle weakness\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Musculoskeletal finding (finding)\Finding of power of skeletal muscle (finding)\Muscle weakness\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Typical nemaline myopathy
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Disease\Genetic disease\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Typical nemaline myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Typical nemaline myopathy
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Typical nemaline myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Typical nemaline myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy (disorder)\Nemaline myopathy, early onset type\Typical nemaline myopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4695180013	Typical nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695181012	Typical nemaline myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399702019	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterized by facial and skeletal muscle weakness and mild respiratory involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399703012	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterised by facial and skeletal muscle weakness and mild respiratory involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695180013	Typical nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695181012	Typical nemaline myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695182017	A moderate neonatal form of nemaline myopathy with characteristics of facial and skeletal muscle weakness and mild respiratory involvement. Disease onset is in the neonatal period. Patients have a long face, a high-arched palate and a tented upper lip. Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus. In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development. Anti-gravity movements are present and respiratory muscle involvement is frequent. Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations. Joint hypermobility can be observed. In a minority of children weakness is more distal. Progression is very slow or absent and most patients are able to live an independent active life. The disease is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes, and disease transmission can be autosomal recessive or dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399702019	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterized by facial and skeletal muscle weakness and mild respiratory involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399703012	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterised by facial and skeletal muscle weakness and mild respiratory involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3427521001000119	Nemalin-Myopathie, typische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3427521001000119	Nemalin-Myopathie, typische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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