111501005: Congenital hereditary muscular dystrophy (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

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

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection dégénérative\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\affection musculaire\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\affection musculaire\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\trouble du développement\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\trouble du développement\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

178743010 Congenital hereditary muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

632216014 Congenital hereditary muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hereditary muscular dystrophy	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	est un(e) (attribut)	Hereditary progressive muscular dystrophy	true	Inferred relationship	Some
Congenital hereditary muscular dystrophy	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	est un(e) (attribut)	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Congenital hereditary muscular dystrophy	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	est un(e) (attribut)	Muscular dystrophy	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	est un(e) (attribut)	Congenital myopathy	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	survenue (attribut)	congénital	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital muscular dystrophy due to lamin A/C mutation (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Western type of congenital muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with hyperlaxity (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Ullrich congenital muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
dystrophie musculaire congénitale par déficit en intégrine alpha-7	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
dystrophie musculaire congénitale de Walker-Warburg	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Eichsfeld type congenital muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy without intellectual disability (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy Paradas type (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with cerebellar involvement	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1B	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1A	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Reunion-Indiana Amish type muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1D large gene mutation (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
dystrophie myotonique congénitale	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Megaconial congenital muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Early onset myopathy with fatal cardiomyopathy (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
X-linked muscular dystrophy with limb girdle distribution	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive muscular dystrophy with gene located at 15q	est un(e) (attribut)	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy	est un(e) (attribut)	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Hutterite type of muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	est un(e) (attribut)	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	est un(e) (attribut)	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
X-linked muscular dystrophy not predominantly limb girdle	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive muscular dystrophy not predominantly limb girdle	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal dominant muscular dystrophy not predominantly limb girdle	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Merosin deficient congenital muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Muscle-eye-brain disease, congenital muscular dystrophy	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Bethlem myopathy (disorder)	est un(e) (attribut)	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
dystrophie musculaire distale	est un(e) (attribut)	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Severe childhood autosomal recessive muscular dystrophy	est un(e) (attribut)	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178743010	Congenital hereditary muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632216014	Congenital hereditary muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core