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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
121721014 Muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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
502402017 Hereditary progressive muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
502403010 Progressive muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (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 Only initial character case insensitive (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
124201000077119 dystrophie musculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
916071000195117 distrofia muscolare it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

123 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Muscular dystrophy Is a Myopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Muscular dystrophy Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
Muscular dystrophy Is a Lesion of skeletal muscle (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Is a Degenerative disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Is a Lesion of soft tissue (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Muscular dystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Muscular dystrophy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Muscular dystrophy Is a Chronic disease of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Is a Developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Muscular dystrophy Is a Degenerative disorder of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Is a Degenerative disorder of muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Muscular dystrophy not predominantly limb girdle in distribution Is a True Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy-deafmutism syndrome Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary muscular dystrophy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to muscular dystrophy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie musculaire oculaire Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie musculaire des ceintures d'Erb Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
dystrophie musculaire des ceintures type 2A Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Benign congenital myopathy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary progressive muscular dystrophy Is a True Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Pelvic muscular dystrophy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de dystrophie musculaire ménopausique Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Becker's muscular dystrophy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Scapuloperoneal muscular dystrophy (disorder) Is a True Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary muscular dystrophy NOS Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Other limb girdle muscular dystrophy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary progressive muscular dystrophy NOS Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Other specified hereditary progressive muscular dystrophy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
FH: Muscular dystrophy Associated finding False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe childhood autosomal recessive muscular dystrophy Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular hypertrophy-cerebral syndrome Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Steinert myotonic dystrophy syndrome Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to muscular dystrophy Associated with False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Restrictive lung disease due to muscular dystrophy (disorder) Due to True Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
FH: Muscular dystrophy Associated finding True Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
FH: Muscular dystrophy Associated finding False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 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. The phenotype is caused by mutation in the FHL1 gene. Is a False Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Emery-Dreifuss muscular dystrophy Is a True Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to muscular dystrophy Due to True Muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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