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4720007: Dystrophy (morphologic abnormality)

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
8873011 Dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy Is a Degenerative abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Oculopharyngeal muscular dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
dystrophie musculaire des ceintures d'Erb Associated morphology False Dystrophy Inferred relationship Some 1
dystrophie musculaire des ceintures type 2A Associated morphology False Dystrophy Inferred relationship Some 1
Benign congenital myopathy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary progressive muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Pelvic muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
syndrome de dystrophie musculaire ménopausique Associated morphology False Dystrophy Inferred relationship Some 1
Scapuloperoneal muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary muscular dystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Other limb girdle muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary progressive muscular dystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Other specified hereditary progressive muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Becker muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
chondrodystrophie malacique Associated morphology False Dystrophy Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency Associated morphology False Dystrophy Inferred relationship Some 1
Schultz disease Associated morphology False Dystrophy Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Type III transitional Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Type IV adult Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Type V atypical Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Type VI Cockayne Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy without a known biochemical basis Associated morphology False Dystrophy Inferred relationship Some 1
Cogan-Reese syndrome (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Juvenile epithelial corneal dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Microscopic cystic corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Globoid cell leukodystrophy, late-onset Associated morphology False Dystrophy Inferred relationship Some 1
Dalmatian leukodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Pelizaeus-Merzbacher disease, connatal variant Associated morphology False Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Alexander disease Associated morphology False Dystrophy Inferred relationship Some 2
Pelizaeus-Merzbacher disease, classic form Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
chondrodystrophie malacique Associated morphology False Dystrophy Inferred relationship Some 1
chondrodystrophie malacique Associated morphology False Dystrophy Inferred relationship Some 3
HSMN IV Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary endothelial dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
dystrophie endothéliale congénitale héréditaire type I Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 2 (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Fleck corneal dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
à l'examen : syndrome de Claude Bernard-Horner Associated morphology False Dystrophy Inferred relationship Some 1
Oculopharyngeal muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease, connatal variant Associated morphology False Dystrophy Inferred relationship Some 1
Thiel-Behnke corneal dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Leucodystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Acquired generalized lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Leucodystrophy without a known biochemical basis Associated morphology False Dystrophy Inferred relationship Some 1
Scapuloperoneal muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Primary hair dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Schnyder crystalline cornea dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy with predominantly proximal limb girdle distribution Associated morphology True Dystrophy Inferred relationship Some 1
Acquired partial lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Severe childhood autosomal recessive muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Lattice corneal dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
HSMN IV Associated morphology False Dystrophy Inferred relationship Some 1
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. Associated morphology True Dystrophy Inferred relationship Some 1
Pelvic muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Squamous cell hyperplasia of vulva Associated morphology True Dystrophy Inferred relationship Some 1
Crocodile shagreen of cornea Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary progressive muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Reis-Bucklers' corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Lattice corneal dystrophy Type I (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Benign congenital myopathy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Congenital total lipodystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Dystrophy of anterior cornea (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Pre-descemet's corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
lipodystrophie associée à une infection au virus de l'immunodéficience humaine Associated morphology False Dystrophy Inferred relationship Some 2
algodystrophie Associated morphology False Dystrophy Inferred relationship Some 1
Hair dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
syndrome de dystrophie musculaire ménopausique Associated morphology False Dystrophy Inferred relationship Some 1
Fuchs' corneal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Combined corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Dystrophy of vulva NOS Associated morphology False Dystrophy Inferred relationship Some 1
dystrophie musculaire des ceintures d'Erb Associated morphology False Dystrophy Inferred relationship Some 1
Secondary hair dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Familial partial lipodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Cutis laxa with osteodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Median canaliform nail dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Irido-corneo-endothelial syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Type IV adult Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Type III transitional Pelizaeus-Merzbacher disease Associated morphology False Dystrophy Inferred relationship Some 1
Globoid cell leukodystrophy, late-onset Associated morphology False Dystrophy Inferred relationship Some 1
Dystrophic cardiomyopathy Associated morphology True Dystrophy Inferred relationship Some 1
Granular corneal dystrophy type II Associated morphology False Dystrophy Inferred relationship Some 1
Partial face-sparing lipodystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher disease, classic form Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Corneal dystrophy unspecified Associated morphology False Dystrophy Inferred relationship Some 1
Fleck corneal dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Other anterior corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Other stromal corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Epithelial basement membrane dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Idiopathic hair dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
lipoatrophie congénitale généralisée Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary progressive muscular dystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 1
Lipoatrophic diabetes Associated morphology True Dystrophy Inferred relationship Some 1
à l'examen : syndrome de Claude Bernard-Horner Associated morphology False Dystrophy Inferred relationship Some 1

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