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73297009: Muscular dystrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
121721014 Muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502401012 MD - Muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
502403010 Progressive muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502404016 PMD - Progressive muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
813669015 Muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
916071000195117 distrofia muscolare it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
124201000077119 dystrophie musculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2292551000195118 Muskeldystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2292561000195115 MD - Muskeldystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2292571000195114 Muskelschwund de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

127 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Muscular dystrophy (disorder) Is a Myopathy false Inferred relationship Some
Muscular dystrophy (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 1
Muscular dystrophy (disorder) Is a Disorder of skeletal muscle true Inferred relationship Some
Muscular dystrophy (disorder) Associated morphology Dystrophy false Inferred relationship Some 1
Muscular dystrophy (disorder) Is a Lesion of skeletal muscle (disorder) false Inferred relationship Some
Muscular dystrophy (disorder) Is a Degenerative disorder false Inferred relationship Some
Muscular dystrophy (disorder) Is a Lesion of soft tissue (disorder) false Inferred relationship Some
Muscular dystrophy (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Muscular dystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Muscular dystrophy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Muscular dystrophy (disorder) Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Muscular dystrophy (disorder) Is a Developmental disorder true Inferred relationship Some
Muscular dystrophy (disorder) Clinical course Progressive true Inferred relationship Some 2
Muscular dystrophy (disorder) Is a Degenerative disorder of musculoskeletal system true Inferred relationship Some
Muscular dystrophy (disorder) Is a Degenerative disorder of muscle true Inferred relationship Some
Muscular dystrophy (disorder) Is a Genetic disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Muscular dystrophy not predominantly limb girdle in distribution Is a True Muscular dystrophy (disorder) Inferred relationship Some
Muscular dystrophy-deafmutism syndrome Is a False Muscular dystrophy (disorder) Inferred relationship Some
Congenital hereditary muscular dystrophy (disorder) Is a False Muscular dystrophy (disorder) Inferred relationship Some
Dilated cardiomyopathy due to muscular dystrophy (disorder) Is a False Muscular dystrophy (disorder) Inferred relationship Some
dystrophie musculaire oculaire Is a False Muscular dystrophy (disorder) Inferred relationship Some
dystrophie musculaire des ceintures d'Erb Is a False Muscular dystrophy (disorder) Inferred relationship Some
dystrophie musculaire des ceintures type 2A Is a False Muscular dystrophy (disorder) Inferred relationship Some
Benign congenital myopathy (disorder) Is a False Muscular dystrophy (disorder) Inferred relationship Some
Hereditary progressive muscular dystrophy Is a True Muscular dystrophy (disorder) Inferred relationship Some
Pelvic muscular dystrophy Is a False Muscular dystrophy (disorder) Inferred relationship Some
syndrome de dystrophie musculaire ménopausique Is a False Muscular dystrophy (disorder) Inferred relationship Some
Becker's muscular dystrophy Is a False Muscular dystrophy (disorder) Inferred relationship Some
Scapuloperoneal muscular dystrophy Is a True Muscular dystrophy (disorder) Inferred relationship Some
Congenital hereditary muscular dystrophy NOS Is a False Muscular dystrophy (disorder) Inferred relationship Some
Other limb girdle muscular dystrophy Is a False Muscular dystrophy (disorder) Inferred relationship Some
Hereditary progressive muscular dystrophy NOS Is a False Muscular dystrophy (disorder) Inferred relationship Some
Other specified hereditary progressive muscular dystrophy Is a False Muscular dystrophy (disorder) Inferred relationship Some
FH: Muscular dystrophy Associated finding False Muscular dystrophy (disorder) Inferred relationship Some 1
Severe childhood autosomal recessive muscular dystrophy Is a False Muscular dystrophy (disorder) Inferred relationship Some
Congenital muscular hypertrophy-cerebral syndrome Is a False Muscular dystrophy (disorder) Inferred relationship Some
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Is a False Muscular dystrophy (disorder) Inferred relationship Some
Dilated cardiomyopathy due to muscular dystrophy (disorder) Associated with False Muscular dystrophy (disorder) Inferred relationship Some 2
Restrictive lung disease due to muscular dystrophy (disorder) Due to True Muscular dystrophy (disorder) Inferred relationship Some 1
FH: Muscular dystrophy Associated finding True Muscular dystrophy (disorder) Inferred relationship Some 1
FH: Muscular dystrophy Associated finding False Muscular dystrophy (disorder) Inferred relationship Some 1
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. Is a False Muscular dystrophy (disorder) Inferred relationship Some
Emery-Dreifuss muscular dystrophy (disorder) Is a True Muscular dystrophy (disorder) Inferred relationship Some
Dilated cardiomyopathy due to muscular dystrophy (disorder) Due to True Muscular dystrophy (disorder) Inferred relationship Some 2

This concept is not in any reference sets

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