77956009: Steinert myotonic dystrophy syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\...

\Myotonic disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\constatation à propos d'un muscle\affection musculaire\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\affection d'un muscle squelettique\Myotonic disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\affection d'un muscle squelettique\Myotonic disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection dégénérative\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myotonic disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection musculaire\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\affection musculaire\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Myotonic disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome
\Disease\trouble du développement\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Steinert myotonic dystrophy syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Hereditary progressive muscular dystrophy	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Myotonic dystrophy (disorder)	true	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Muscular dystrophy	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	est un(e) (attribut)	Myotonic disorder	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	false	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dilated cardiomyopathy due to myotonic dystrophy (disorder)	Due to	False	Steinert myotonic dystrophy syndrome	Inferred relationship	Some	2
Dilated cardiomyopathy due to myotonic dystrophy (disorder)	associé à (attribut)	False	Steinert myotonic dystrophy syndrome	Inferred relationship	Some	2
Cardiomyopathy in myotonic dystrophy	associé à (attribut)	False	Steinert myotonic dystrophy syndrome	Inferred relationship	Some	1
dystrophie myotonique congénitale	est un(e) (attribut)	False	Steinert myotonic dystrophy syndrome	Inferred relationship	Some
Family history of Steinert myotonic dystrophy (situation)	constatation associée (attribut)	True	Steinert myotonic dystrophy syndrome	Inferred relationship	Some	1

Reference Sets

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)

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Id	Description	Lang	Type	Status	Case?	Module
120721000172118	dystrophie myotonique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1234184014	Myotonic dystrophy	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234185010	DM - Dystrophia myotonica	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1234186011	Myotonia dystrophica	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
129376015	Steinert myotonic dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
129377012	Steinert syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
129378019	Dystrophia myotonica	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
310871000172112	dystrophie myotonique de Steinert	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
4643494017	Myotonic dystrophy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643495016	Steinert disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
467861000241118	dystrophie myotonique de Steinert (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
818843014	Steinert myotonic dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core