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111501005: Congenital hereditary muscular dystrophy (disorder)

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

Descriptions:

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

50 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 Existential restriction modifier
Congenital hereditary muscular dystrophy Is a Congenital myopathy false Inferred relationship Existential restriction modifier
Congenital hereditary muscular dystrophy Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Is a Congenital anomaly of skeletal muscle true Inferred relationship Existential restriction modifier
Congenital hereditary muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital hereditary muscular dystrophy Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Congenital hereditary muscular dystrophy Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Congenital hereditary muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 3
Congenital hereditary muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
Congenital hereditary muscular dystrophy Is a Hereditary progressive muscular dystrophy true Inferred relationship Existential restriction modifier
Congenital hereditary muscular dystrophy Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital hereditary muscular dystrophy Clinical course Progressive true Inferred relationship Existential restriction modifier 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 Existential restriction modifier
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Autosomal recessive muscular dystrophy with gene located at 15q Is a False Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy Is a False Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Hutterite type of muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Adult onset autosomal recessive muscular dystrophy with normal dystrophin Is a False Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution Is a False Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
X-linked muscular dystrophy not predominantly limb girdle Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Autosomal recessive muscular dystrophy not predominantly limb girdle Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Autosomal dominant muscular dystrophy not predominantly limb girdle Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Merosin deficient congenital muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Muscle-eye-brain disease, congenital muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Severe childhood autosomal recessive muscular dystrophy Is a False Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Early onset myopathy with fatal cardiomyopathy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Bethlem myopathy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Distal muscular dystrophy Is a False Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy due to lamin A/C mutation Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular hypertrophy-cerebral syndrome Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Western type of congenital muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with hyperlaxity Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with arthrogryposis multiplex congenita Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Ullrich congenital muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with intellectual disability Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with integrin alpha-7 deficiency Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Autosomal recessive myogenic arthrogryposis multiplex congenita Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Walker-Warburg congenital muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Eichsfeld type congenital muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex with muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy without intellectual disability Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy Paradas type Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with cerebellar involvement Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1B Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1A Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Reunion-Indiana Amish type muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1D large gene mutation Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Congenital myotonic dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier
Megaconial congenital muscular dystrophy Is a True Congenital hereditary muscular dystrophy Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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