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107669003: Degenerative abnormality (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
172105010 Degenerative abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
593391011 Degenerative abnormality (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
172105010 Degenerative abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
172105010 Degenerative abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
593391011 Degenerative abnormality (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
593391011 Degenerative abnormality (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
65101000077112 anomalie dégénérative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
65101000077112 anomalie dégénérative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

194 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative abnormality (morphologic abnormality) Is a Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal detachment and occipital encephalocele Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile ascending hereditary spastic paralysis (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinoschisis Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile cerebellar degeneration AND myoclonus Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Degeneration of intervertebral disc Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Nodular degeneration of cornea (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Nutritional muscular degeneration Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary choroidal dystrophy (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary localized osteoarthrosis of pelvic region Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Interphalangeal osteoarthritis Associated morphology False Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile osteochondrosis of symphysis pubis Associated morphology False Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Choroideremia with deafness and obesity syndrome Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 26 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 26 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 25 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 25 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 23 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 23 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked neurodegenerative syndrome Bertini type (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 39 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 11 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 11 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 12 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 12 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 13 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 13 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 14 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 14 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 17 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 17 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 18 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 18 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 19 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 19 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 27 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 27 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 32 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 32 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 35 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 35 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 37 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 37 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 5 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 5 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked sideroblastic anaemia with spinocerebellar ataxia Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked sideroblastic anaemia with spinocerebellar ataxia Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked spinocerebellar ataxia type 3 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked spinocerebellar ataxia type 3 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked spinocerebellar ataxia type 4 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked spinocerebellar ataxia type 4 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal cerebellar syndrome Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Corneal cerebellar syndrome Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-amnestic Alzheimer disease (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult retinoschisis Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary progressive apraxia of speech (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Choroideraemia Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Facial onset sensory and motor neuronopathy syndrome (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked spastic paraplegia type 2 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 36 Associated morphology False Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 4 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterised by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 53 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 54 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 55 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 57 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinohepatoendocrinologic syndrome (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tendinosis Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile onset spinocerebellar ataxia (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile onset spinocerebellar ataxia (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intervertebral disc degeneration of cervical spine without prolapsed disc Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked hereditary spastic paraplegia (disorder) Associated morphology False Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant striatal neurodegeneration (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial Scheuermann disease (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 32 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 26 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 23 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 64 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 63 (disorder) Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 61 Associated morphology True Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Associated morphology False Degenerative abnormality (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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