111501005: Congenital hereditary muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy

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

\Muscle finding\Disorder of muscle\...

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

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

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

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

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disorder of skeletal muscle\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\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
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\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
\Disease\Developmental disorder\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

1588851000052112 medfödd ärftlig muskeldystrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hereditary muscular dystrophy	Is a	Muscular dystrophy	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Is a	Congenital myopathy	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Is a	Hereditary progressive muscular dystrophy	true	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked muscular dystrophy with limb girdle distribution	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
autosomalt recessiv muskeldystrofi med gen belägen på 15q	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
medfödd muskeldystrofi	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Hutterite type of muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
X-linked muscular dystrophy not predominantly limb girdle	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive muscular dystrophy not predominantly limb girdle	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal dominant muscular dystrophy not predominantly limb girdle	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Merosin deficient congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Muscle-eye-brain disease, congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Severe childhood autosomal recessive muscular dystrophy	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Early onset myopathy with fatal cardiomyopathy (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Bethlem myopathy (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Distal muscular dystrophy	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy due to lamin A/C mutation (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular hypertrophy-cerebral syndrome	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Western type of congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with hyperlaxity (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Ullrich congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Eichsfeld type congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy without intellectual disability (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy Paradas type (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with cerebellar involvement	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1B	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1A	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Reunion-Indiana Amish type muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1D large gene mutation (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder)	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital myotonic dystrophy	Is a	True	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
1588851000052112	medfödd ärftlig muskeldystrofi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)