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\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\A type of nemaline myopathy (NM) only observed in several families of the Amish community.

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
5399706016	A type of nemaline myopathy (NM) only observed in several families of the Amish community.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
7729871000241116	myopathie à bâtonnets de type Amish	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7729881000241119	myopathie à némaline de type Amish	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452661001000113	Nemalin-Myopathie Typ Amish	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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