1197154006: nemalinemyopathie beginnend op kinderleeftijd (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of movement (finding)\Loss of motor function\Muscle weakness\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Finding of movement (finding)\Movement disorder\Nemaline myopathy\Childhood-onset nemaline myopathy
• \General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Childhood-onset nemaline myopathy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)\Childhood-onset nemaline myopathy
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Childhood-onset nemaline myopathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Childhood-onset nemaline myopathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Disease\Genetic disease\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Childhood-onset nemaline myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset nemaline myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Childhood-onset nemaline myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Childhood-onset nemaline myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Childhood-onset nemaline myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Childhood-onset nemaline myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Childhood-onset nemaline myopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Disease\Movement disorder\Nemaline myopathy\Childhood-onset nemaline myopathy
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Childhood-onset nemaline myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Childhood-onset 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
4695184016	Childhood-onset nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695185015	Childhood-onset nemaline myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695189014	Mild nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13586991000146115	milde nemalinemyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13587001000146113	nemalinemyopathie beginnend op kinderleeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13587011000146110	'rod body'-myopathie beginnend op kinderleeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13587021000146117	nemalinemyopathie beginnend op kinderleeftijd (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4695210010	A type of nemaline myopathy with characteristics of distal muscle weakness and sometimes slowness of muscle contraction. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness. This form of nemaline myopathy is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes. Transmission follows an autosomal dominant pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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