1172688004: Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\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\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4635369015 Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4635370019 Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4635371015 Congenital muscular dystrophy Davignon Chauveau type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Existential restriction modifier
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4635369015	Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4635370019	Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4635371015	Congenital muscular dystrophy Davignon Chauveau type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module