1197155007: Amish nemaline myopathy (disorder)

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

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
4695202014	Amish nemaline myopathy	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start