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111501005: Congenital hereditary muscular dystrophy (disorder)


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 Reference Sets
178743010 Congenital hereditary muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
632216014 Congenital hereditary muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1456651000005118 Kongenit hereditær muskeldystrofi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

47 descendants. Search Descendants:

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 (body 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 kongenit 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 (body structure) false Inferred relationship Some 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) true Inferred relationship Some 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
Congenital hereditary muscular dystrophy Occurrence Congenital false Inferred relationship Some 3
Congenital hereditary muscular dystrophy Associated morphology dysgenese false Inferred relationship Some 3
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure (body 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 (attribute) 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 (disorder) Is a True Congenital hereditary muscular dystrophy Inferred relationship Some
Autosomal recessiv muskeldystrofi forårsaget af gen med locus på kromosom 15q Is a False Congenital hereditary muscular dystrophy Inferred relationship Some
Kongenit 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

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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