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1197154006: Childhood-onset 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
5399704018 Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399705017 Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterised by distal muscle weakness, and sometimes slowness of muscle contraction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
7729831000241118 myopathie à bâtonnets modérée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7729841000241111 myopathie à némaline modérée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7729851000241114 myopathie à némaline de l'enfant fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431021001000115 Nemalin-Myopathie, milde 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
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Is a Nemaline myopathy true Inferred relationship Some
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Occurrence Childhood true Inferred relationship Some 1
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Finding site Skeletal muscle structure true Inferred relationship Some 1
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Clinical course Progressive true Inferred relationship Some 2
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Is a Progressive weakness of muscle true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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