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1197153000: Typical 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
4695180013 Typical nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695181012 Typical nemaline myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399702019 Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterized by facial and skeletal muscle weakness and mild respiratory involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399703012 Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy characterised by facial and skeletal muscle weakness and mild respiratory involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Typical nemaline myopathy Is a Nemaline myopathy, early onset type true Inferred relationship Some
Typical nemaline myopathy Is a Autosomal hereditary disorder true Inferred relationship Some
Typical nemaline myopathy Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Typical nemaline myopathy Occurrence Congenital true Inferred relationship Some 1
Typical nemaline myopathy Finding site Skeletal muscle structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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