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1197156008: Intermediate nemaline myopathy (disorder)

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
5399707013 Intermediate nemaline myopathy is a type of nemaline myopathy that shows features of typical NM in neonates with a more severe progression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5399707013 Intermediate nemaline myopathy is a type of nemaline myopathy that shows features of typical NM in neonates with a more severe progression. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3382291001000116 Nemalin-Myopathie, intermediäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382291001000116 Nemalin-Myopathie, intermediäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept)
Intermediate nemaline myopathy Is a Nemaline myopathy, early onset type true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate nemaline myopathy Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate nemaline myopathy Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate nemaline myopathy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intermediate nemaline myopathy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intermediate nemaline myopathy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intermediate nemaline myopathy Is a Progressive weakness of muscle (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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