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107669003: Degenerative abnormality (morphologic abnormality)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
172105010 Degenerative abnormality en Synonym Active Case insensitive SNOMED CT core
593391011 Degenerative abnormality (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core


289 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative abnormality Is a Morphologically abnormal structure true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive cerebellar ataxia due to STUB1 deficiency Associated morphology True Degenerative abnormality Inferred relationship Some 2
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency Associated morphology True Degenerative abnormality Inferred relationship Some 2
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 71 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal spastic paraplegia type 72 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Huntington disease-like syndrome due to C9ORF72 expansions Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 66 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Infantile cerebellar and retinal degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
Infantile cerebellar and retinal degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 2
Brachydactyly, short stature, retinitis pigmentosa syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 3
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 2
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Progressive myoclonic epilepsy type 3 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Leigh syndrome with nephrotic syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Associated morphology True Degenerative abnormality Inferred relationship Some 1
Ataxia with tapetoretinal degeneration syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 38 Associated morphology True Degenerative abnormality Inferred relationship Some 1
X-linked spastic paraplegia type 16 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 13 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 56 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Amyotrophic lateral sclerosis type 4 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Huntington disease-like 1 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 58 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 70 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 31 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 41 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 42 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 48 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 37 Associated morphology False Degenerative abnormality Inferred relationship Some 2
X-linked spastic paraplegia type 34 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 5A Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 19 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 28 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Autosomal spastic paraplegia type 30 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Spastic paraplegia, facial cutaneous lesion syndrome Associated morphology False Degenerative abnormality Inferred relationship Some 2
Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 21 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 62 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Spinocerebellar ataxia with axonal neuropathy type 1 Associated morphology True Degenerative abnormality Inferred relationship Some 2
Spinocerebellar ataxia with axonal neuropathy type 1 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Primary essential cutis verticis gyrata Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 45 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 67 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 2
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Sarcopenia Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 59 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Severe neurodegenerative syndrome with lipodystrophy Associated morphology True Degenerative abnormality Inferred relationship Some 2
PRKAR1B-related neurodegenerative dementia with intermediate filaments Associated morphology True Degenerative abnormality Inferred relationship Some 1
Ferro-cerebro-cutaneous syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Fatal post-viral neurodegenerative disorder Associated morphology True Degenerative abnormality Inferred relationship Some 1
Stickler syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Deafmutism-retinal degeneration syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Diffuse Lewy body disease Associated morphology True Degenerative abnormality Inferred relationship Some 3
Diffuse Lewy body disease Associated morphology True Degenerative abnormality Inferred relationship Some 2
Primary progressive cerebellar degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
Neurofibrillary degeneration Is a True Degenerative abnormality Inferred relationship Some
Angioid streaks of choroid Associated morphology True Degenerative abnormality Inferred relationship Some 1
Descending degeneration Is a True Degenerative abnormality Inferred relationship Some
Dying back phenomenon Associated morphology True Degenerative abnormality Inferred relationship Some 1
Wilson's disease Associated morphology True Degenerative abnormality Inferred relationship Some 2
Wilson's disease Associated morphology True Degenerative abnormality Inferred relationship Some 1
Wilson's disease Associated morphology True Degenerative abnormality Inferred relationship Some 3
Peripheral degeneration of cornea Associated morphology True Degenerative abnormality Inferred relationship Some 1
Juvenile osteochondrosis of head of metacarpals Associated morphology True Degenerative abnormality Inferred relationship Some 1
Aicardi's syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degenerative disease of the central nervous system Associated morphology True Degenerative abnormality Inferred relationship Some 1
Abnormal hard tissue formation in pulp Associated morphology True Degenerative abnormality Inferred relationship Some 1
Iridectomy with filtering operation for glaucoma Procedure morphology True Degenerative abnormality Inferred relationship Some 2
Flat retinoschisis Associated morphology True Degenerative abnormality Inferred relationship Some 2
Juvenile osteochondrosis of carpal lunate Associated morphology True Degenerative abnormality Inferred relationship Some 1
Transposition of pterygium Procedure morphology True Degenerative abnormality Inferred relationship Some 2
Focal degeneration Is a True Degenerative abnormality Inferred relationship Some
Granulovacuolar degeneration Is a True Degenerative abnormality Inferred relationship Some
Posthemiplegic ataxia Associated morphology True Degenerative abnormality Inferred relationship Some 1
Mucoid degeneration Is a True Degenerative abnormality Inferred relationship Some
Localised osteoarthrosis uncertain if primary OR secondary Associated morphology True Degenerative abnormality Inferred relationship Some 1
Azorean disease Associated morphology True Degenerative abnormality Inferred relationship Some 1
Azorean disease Associated morphology True Degenerative abnormality Inferred relationship Some 2
Azorean disease, type I Associated morphology True Degenerative abnormality Inferred relationship Some 1
Azorean disease, type I Associated morphology True Degenerative abnormality Inferred relationship Some 2
Azorean disease, type II Associated morphology True Degenerative abnormality Inferred relationship Some 1
Azorean disease, type II Associated morphology True Degenerative abnormality Inferred relationship Some 2
Azorean disease, type III Associated morphology True Degenerative abnormality Inferred relationship Some 1
Azorean disease, type III Associated morphology True Degenerative abnormality Inferred relationship Some 2
Azorean disease, type IV Associated morphology True Degenerative abnormality Inferred relationship Some 1
Azorean disease, type IV Associated morphology True Degenerative abnormality Inferred relationship Some 2
Chronic degenerative aortic valve disease Associated morphology True Degenerative abnormality Inferred relationship Some 1
Circumpapillary dystrophy of choroid Associated morphology True Degenerative abnormality Inferred relationship Some 1
Congenital degeneration of nervous system Associated morphology True Degenerative abnormality Inferred relationship Some 1
Congenital retinoschisis Associated morphology False Degenerative abnormality Inferred relationship Some 2

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