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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
Hyperplastic dystrophy Is a True Dystrophy Inferred relationship Some
Pseudohypertrophic dystrophy Is a True Dystrophy Inferred relationship Some
Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes Associated morphology False Dystrophy Inferred relationship Some 2
Mucopolysaccharidosis, MPS-IV-B Associated morphology False Dystrophy Inferred relationship Some
Median nail dystrophy of Heller Associated morphology False Dystrophy Inferred relationship Some 1
Congenital myotonic dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Squamous cell hyperplasia of vulva Associated morphology False Dystrophy Inferred relationship Some 1
Congenital total lipodystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Bietti's crystalline retinopathy Associated morphology False Dystrophy Inferred relationship Some 1
Hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Primary hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Secondary hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Idiopathic hair dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Lipoatrophic diabetes Associated morphology False Dystrophy Inferred relationship Some 2
syndrome douloureux régional complexe de type 1 Associated morphology False Dystrophy Inferred relationship Some 1
Late-infantile neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Lichen sclerosus et atrophicus of the vulva Associated morphology False Dystrophy Inferred relationship Some 2
Robinson nail dystrophy-deafness syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Dilated cardiomyopathy due to myotonic dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some
Schwartz-Jampel syndrome Associated morphology False Dystrophy Inferred relationship Some
Morquio syndrome Associated morphology False Dystrophy Inferred relationship Some
Neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Hepatosis dietetica Associated morphology False Dystrophy Inferred relationship Some
Familial partial lipodystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
algodystrophie Associated morphology False Dystrophy Inferred relationship Some 1
Dystrophy of vulva Associated morphology False Dystrophy Inferred relationship Some 1
Infantile neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Adult neuronal ceroid lipofuscinosis Associated morphology False Dystrophy Inferred relationship Some
Lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-A Associated morphology False Dystrophy Inferred relationship Some
Cutis laxa with osteodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Associated morphology False Dystrophy Inferred relationship Some
Acquired partial lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
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 False Dystrophy Inferred relationship Some 1
chondrodystrophie malacique Associated morphology False Dystrophy Inferred relationship Some 1
Median nail dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Acquired generalized lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Partial face-sparing lipodystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Lipodystrophy NOS Associated morphology False Dystrophy Inferred relationship Some 2
Dystrophy of vulva NOS Associated morphology False Dystrophy Inferred relationship Some 1
Membranous lipodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Median canaliform nail dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Dystrophic cardiomyopathy Associated morphology False Dystrophy Inferred relationship Some 1
Fuchs' corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Irido-corneo-endothelial syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Polymorphous corneal dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal oedema. Associated morphology False Dystrophy Inferred relationship Some 1
chondrodystrophie malacique Associated morphology False Dystrophy Inferred relationship Some 3
chondrodystrophie malacique Associated morphology False Dystrophy Inferred relationship Some 2
lipoatrophie congénitale généralisée Associated morphology False Dystrophy Inferred relationship Some 2
chondrodystrophie malacique Associated morphology False Dystrophy Inferred relationship Some 2
Distal muscular dystrophy with juvenile onset Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy with predominantly proximal limb girdle distribution Associated morphology False Dystrophy Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Associated morphology True Dystrophy Inferred relationship Some 1
X-linked muscular dystrophy with abnormal dystrophin Associated morphology True Dystrophy Inferred relationship Some 1
Intermediate X-linked muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Manifesting female carrier of X-linked muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
X-linked limb girdle muscular dystrophy with normal dystrophin Associated morphology True Dystrophy Inferred relationship Some 1
Ji muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Hereditary myopathy limited to females Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False Dystrophy Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Dystrophy Inferred relationship Some 1
Reunion-Indiana Amish type muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Western type of congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple Associated morphology True Dystrophy Inferred relationship Some 1
Ullrich congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Eichsfeld type congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Hutterite type of muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant muscular dystrophy with gene located at 5q31 Associated morphology True Dystrophy Inferred relationship Some 1
Late onset proximal muscular dystrophy with dysarthria Associated morphology True Dystrophy Inferred relationship Some 1
Muscular dystrophy not predominantly limb girdle in distribution Associated morphology False Dystrophy Inferred relationship Some 1
X-linked muscular dystrophy not predominantly limb girdle (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology False Dystrophy Inferred relationship Some 1
Autosomal recessive muscular dystrophy not predominantly limb girdle Associated morphology True Dystrophy Inferred relationship Some 1
Scapulohumeral muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Autosomal dominant muscular dystrophy not predominantly limb girdle Associated morphology True Dystrophy Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Severe scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology False Dystrophy Inferred relationship Some 1
Benign congenital muscular dystrophy with finger flexion contractures Associated morphology True Dystrophy Inferred relationship Some 1
Distal muscular dystrophy with adult onset Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy-deafmutism syndrome Associated morphology False Dystrophy Inferred relationship Some 1
Congenital hereditary muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Fukuyama congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Walker-Warburg congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Distal muscular dystrophy, Miyoshi type Associated morphology True Dystrophy Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Severe childhood autosomal recessive muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Distal muscular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
dystrophie musculaire oculaire Associated morphology False Dystrophy Inferred relationship Some 1
Muscular dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1
Oculopharyngeal muscular dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 1

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