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58795000: Distal muscular dystrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
97704017 Distal muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
797566013 Distal muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635423019 Distal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
97703011 Gower's muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
97704017 Distal muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
97704017 Distal muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
797566013 Distal muscular dystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
797566013 Distal muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635423019 Distal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437171001000111 Miyoshi-Myopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
445001000172119 dystrophie musculaire distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
445001000172119 dystrophie musculaire distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437171001000111 Miyoshi-Myopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


17 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal muscular dystrophy Is a Autosomal recessive muscular dystrophy not predominantly limb girdle false Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal muscular dystrophy Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal muscular dystrophy Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Is a Congenital hereditary muscular dystrophy false Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Is a Muscular dystrophy not predominantly limb girdle in distribution true Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Is a Hereditary progressive muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal muscular dystrophy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Distal muscular dystrophy with juvenile onset Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Benign congenital muscular dystrophy with finger flexion contractures Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy with adult onset Is a False Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy, Miyoshi type Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy 2 Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Tibial muscular dystrophy Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy Welander type (disorder) Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy with early respiratory muscle involvement Is a False Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Finnish upper limb onset distal myopathy (disorder) Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
KLHL9-related early-onset distal myopathy Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Oculopharyngodistal myopathy (disorder) Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Laing early-onset distal myopathy Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal myopathy with anterior tibial onset Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal nebulin myopathy (disorder) Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal anoctaminopathy Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Progressive scapulohumeroperoneal distal myopathy (disorder) Is a True Distal muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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