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1197157004: Severe congenital 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
4695213012 Severe congenital nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695214018 Severe congenital nemaline myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399708015 Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399709011 Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterised by severe hypotonia with little spontaneous movement in neonates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4695213012 Severe congenital nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695214018 Severe congenital nemaline myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4695215017 A severe form of nemaline myopathy with characteristics of severe hypotonia with little spontaneous movement in neonates. Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of the disease. Transmission is autosomal recessive or occurs sporadically. Survival after infancy is rare. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399708015 Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterized by severe hypotonia with little spontaneous movement in neonates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399709011 Severe congenital nemaline myopathy is a severe form of nemaline myopathy characterised by severe hypotonia with little spontaneous movement in neonates. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412081001000119 Nemalin-Myopathie, kongenitale schwere de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412081001000119 Nemalin-Myopathie, kongenitale schwere 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
Severe congenital nemaline myopathy Is a Nemaline myopathy, early onset type true Inferred relationship Existential restriction modifier (core metadata concept)
Severe congenital nemaline myopathy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe congenital nemaline myopathy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 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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