1197154006: Childhood-onset nemaline myopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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\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 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\Disorder of skeletal muscle\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

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

13755641000172114 milde nemalinemyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13755651000172111 nemalinemyopathie beginnend op kinderleeftijd nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13755661000172113 'rod body'-myopathie beginnend op kinderleeftijd nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Childhood-onset nemaline myopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Childhood-onset nemaline myopathy	Is a	Nemaline myopathy	true	Inferred relationship	Some
Childhood-onset nemaline myopathy	Occurrence	Childhood	true	Inferred relationship	Some	1
Childhood-onset nemaline myopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Childhood-onset nemaline myopathy	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Childhood-onset nemaline myopathy	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Childhood-onset nemaline myopathy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
13755641000172114	milde nemalinemyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13755651000172111	nemalinemyopathie beginnend op kinderleeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13755661000172113	'rod body'-myopathie beginnend op kinderleeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)