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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
3931000172112 dystrophie musculaire progressive héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

122 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary progressive muscular dystrophy Is a Muscular dystrophy (disorder) true Inferred relationship Some
Hereditary progressive muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Some 1
Hereditary progressive muscular dystrophy Associated morphology Dystrophy false Inferred relationship Some 1
Hereditary progressive muscular dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
Hereditary progressive muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Some 1
Hereditary progressive muscular dystrophy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hereditary progressive muscular dystrophy Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hereditary progressive muscular dystrophy Clinical course Progressive true Inferred relationship Some 2
Hereditary progressive muscular dystrophy Is a Developmental hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. Is a False Hereditary progressive muscular dystrophy Inferred relationship Some
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 Some
Distal muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
Muscular dystrophy with predominantly proximal limb girdle distribution Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
Congenital hereditary muscular dystrophy (disorder) Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
A rare, genetic, muscular dystrophy disease characterized by 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. Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
Severe childhood autosomal recessive muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) Is a True Hereditary progressive muscular dystrophy 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 Hereditary progressive muscular dystrophy Inferred relationship Some
Autosomal recessive Emery-Dreifuss muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
X-linked Emery-Dreifuss muscular dystrophy Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
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 True Hereditary progressive muscular dystrophy Inferred relationship Some
Myotonic dystrophy (disorder) Is a True Hereditary progressive muscular dystrophy Inferred relationship Some
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern. Is a True Hereditary progressive muscular dystrophy Inferred relationship Some

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