4720007: Dystrophy (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Degenerative abnormality\Dystrophy

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

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
Adrenomyeloneuropathy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory.	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Nail dystrophy caused by chemical	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Essential iris atrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	3
Essential iris atrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	4
Essential iris atrophy of right eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Essential iris atrophy of left eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Sorsby pseudoinflammatory fundus dystrophy of left eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Sorsby pseudoinflammatory fundus dystrophy of right eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Sorsby pseudoinflammatory fundus dystrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Sorsby pseudoinflammatory fundus dystrophy of bilateral eyes (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Fundus flavimaculatus of right eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Fundus flavimaculatus of left eye (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Cholestanol storage disease	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
A rare genetic neurological disorder with characteristics of hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Total peripapillary choroidal dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Partial peripapillary dystrophy of choroid (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Intermediate COL6-RD is caused by heterozygous or biallelic pathogenic variants (PVs) in the genes coding for the alpha chains of the extracellular matrix protein collagen VI (COL6A1, COL6A2, and COL6A3).	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Trachyonychia	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
A rare, isolated nail anomaly characterised by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
A rare, genetic retinal disease characterized by the characteristic dried-out soil fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.	Associated morphology	True	Dystrophy	Inferred relationship	Some	2
Schöpf-Schulz-Passarge syndrome	Associated morphology	True	Dystrophy	Inferred relationship	Some	4
Adult-onset Steinert myotonic dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Childhood-onset Steinert myotonic dystrophy	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Juvenile-onset Steinert myotonic dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1
Late-onset Steinert myotonic dystrophy (disorder)	Associated morphology	True	Dystrophy	Inferred relationship	Some	1

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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