75072002: Nemaline myopathy (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\constatation à propos de la puissance d'un muscle squelettique\faiblesse musculaire\Nemaline myopathy
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Nemaline myopathy

\constatation à propos d'un muscle\constatation à propos de la puissance d'un muscle squelettique\faiblesse musculaire\Nemaline myopathy
\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Nemaline myopathy

\Musculoskeletal finding\constatation à propos de la puissance d'un muscle squelettique\faiblesse musculaire\Nemaline myopathy
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Nemaline myopathy

\Disease\Genetic disease\Nemaline myopathy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Nemaline myopathy
\Disease\affection musculaire\affection d'un muscle squelettique\Nemaline myopathy
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Nemaline myopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

124688012 Nemaline myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

124689016 Nemaline body disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

124690013 Rod myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

464411000241113 myopathie à némaline (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

502903015 Rod-body myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

815641013 Nemaline myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

919491000172114 myopathie congénitale à bâtonnets fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

926621000172111 myopathie à némaline fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nemaline myopathy	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Nemaline myopathy	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Nemaline myopathy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Nemaline myopathy	est un(e) (attribut)	Genetic disease	true	Inferred relationship	Some
Nemaline myopathy	est un(e) (attribut)	faiblesse musculaire	true	Inferred relationship	Some
Nemaline myopathy	est un(e) (attribut)	affection d'un muscle squelettique	true	Inferred relationship	Some
Nemaline myopathy	est un(e) (attribut)	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Nemaline myopathy	survenue (attribut)	congénital	false	Inferred relationship	Some
Nemaline myopathy	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Nemaline myopathy	est un(e) (attribut)	Congenital myopathy	false	Inferred relationship	Some
Nemaline myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Nemaline myopathy	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Nemaline myopathy	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Nemaline myopathy	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Nemaline myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Nemaline myopathy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Childhood-onset nemaline myopathy	est un(e) (attribut)	True	Nemaline myopathy	Inferred relationship	Some
Nemaline myopathy, early onset type	est un(e) (attribut)	True	Nemaline myopathy	Inferred relationship	Some
Nemaline myopathy, late onset type	est un(e) (attribut)	True	Nemaline myopathy	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)