1197155007: Amish nemaline myopathy (disorder)

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

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
4695201019	Amish nemaline myopathy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695202014	Amish nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695203016	A type of nemaline myopathy only observed in several families of the Amish community. It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subside after 2-3 months of age. The causative gene is TNNT1 (19q13.4) and transmission follows an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13817481000172116	Amish-gerelateerde 'rod body'-myopathie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
13817491000172118	nemalinemyopathie type Amish	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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