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1197155007: Amish 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
4695201019 Amish nemaline myopathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4695202014 Amish nemaline myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399706016 A type of nemaline myopathy (NM) only observed in several families of the Amish community. 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
Amish nemaline myopathy (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Amish nemaline myopathy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Amish nemaline myopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Amish nemaline myopathy (disorder) Is a Nemaline myopathy, early onset type true Inferred relationship Some
Amish nemaline myopathy (disorder) Occurrence Congenital 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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