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193225000: Hereditary progressive 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
297608012 Hereditary progressive muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
577087018 Hereditary progressive muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
297608012 Hereditary progressive muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
297608012 Hereditary progressive muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
577087018 Hereditary progressive muscular dystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
577087018 Hereditary progressive muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430641001000114 Muskeldystrophie, progressive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3931000172112 dystrophie musculaire progressive héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3931000172112 dystrophie musculaire progressive héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430641001000114 Muskeldystrophie, progressive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

118 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary progressive muscular dystrophy Is a Muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary progressive muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary progressive muscular dystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary progressive muscular dystrophy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary progressive muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary progressive muscular dystrophy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary progressive muscular dystrophy Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary progressive muscular dystrophy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary progressive muscular dystrophy Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Bethlem myopathy Is a False Hereditary progressive 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 False Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Distal muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy with predominantly proximal limb girdle distribution Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Severe childhood autosomal recessive muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Steinert myotonic dystrophy syndrome Is a False Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Emery-Dreifuss muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Emery-Dreifuss muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
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 True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Myotonic dystrophy (disorder) Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder) Is a True Hereditary progressive muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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