1197156008: Intermediate 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\Intermediate nemaline myopathy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Intermediate nemaline myopathy
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy

\Disease\Genetic disease\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Intermediate nemaline myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intermediate nemaline myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Intermediate nemaline myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
\Disease\Congenital disease (disorder)\Nemaline myopathy, early onset type\Intermediate nemaline myopathy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Intermediate nemaline myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Nemaline myopathy\Nemaline myopathy, early onset type\Intermediate 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

4695208013 Intermediate nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4695209017 Intermediate nemaline myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4695211014 A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4695212019 A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalised weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13648041000172118 intermediaire nemalinemyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13648051000172116 intermediaire 'rod body'-myopathie 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
Intermediate nemaline myopathy	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Intermediate nemaline myopathy	Is a	Nemaline myopathy, early onset type	true	Inferred relationship	Some
Intermediate nemaline myopathy	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Intermediate nemaline myopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Intermediate nemaline myopathy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Intermediate nemaline myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Intermediate nemaline myopathy	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4695208013	Intermediate nemaline myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695209017	Intermediate nemaline myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695211014	A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695212019	A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalised weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13648041000172118	intermediaire nemalinemyopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13648051000172116	intermediaire 'rod body'-myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)