111501005: Congenital hereditary muscular dystrophy (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

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

\Muscle finding\Myopathy\...

\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\Musculoskeletal disorder\...

\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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, Defined. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

178743010 Congenital hereditary muscular dystrophy en Synonym Active Case insensitive SNOMED CT core
187827018 Benign congenital myopathy en Synonym Inactive Initial character case insensitive SNOMED CT core
632216014 Congenital hereditary muscular dystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hereditary muscular dystrophy	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Congenital hereditary muscular dystrophy	Pathological process	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	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hereditary muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Some	2
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	Congenital anomaly	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	Developmental abnormality	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Congenital hereditary muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
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	Occurrence	Congenital	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital muscular dystrophy due to LMNA mutation	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	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	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	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	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy without intellectual disability	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital myopathy Paradas type	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	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy type 1D large gene mutation	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital myotonic dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Megaconial congenital muscular dystrophy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Early onset myopathy with fatal cardiomyopathy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
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
Autosomal recessive muscular dystrophy with gene located at 15q	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Congenital muscular dystrophy	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
Bethlem myopathy	Is a	True	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Distal muscular dystrophy	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some
Severe childhood autosomal recessive muscular dystrophy	Is a	False	Congenital hereditary muscular dystrophy	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
178743010	Congenital hereditary muscular dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
187827018	Benign congenital myopathy	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
632216014	Congenital hereditary muscular dystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core