13331008: Atrophy (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\Degenerative abnormality\Atrophy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atrophy (morphologic abnormality)	Is a	Degenerative abnormality	false	Inferred relationship	Some
Atrophy (morphologic abnormality)	Is a	Degeneration	false	Inferred relationship	Some
Atrophy (morphologic abnormality)	Is a	Degenerative abnormality	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Placenta fenestrata	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophic cervicitis (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Benign monomelic amyotrophy of lower limb (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Benign monomelic amyotrophy of upper limb (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Acquired cerebellar atrophy	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
A disorder defined as retinal pigment disturbances including hypopigmentation and hyperpigmentation in colour fundus photographs that typically corresponded to hyperfluorescence and hypofluorescence in fluorescein angiogram images within or overlapping areas previously occupied by CNV (choroidal neovascularisation).	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Denture stomatitis	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	4
Chronic atrophic candidiasis	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Phthisis bulbi of left eye (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Phthisis bulbi of right eye (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Necrobiosis lipoidica, granulomatous type	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	3
Necrobiosis lipoidica diabeticorum (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	3
Granulomatosis disciformis et progressiva	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	4
Necrobiosis lipoidica, necrobiotic type	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	3
Necrobiosis lipoidica	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	3
Atrophy of right orbit (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophy of left orbit (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Bilateral orbital atrophy	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Bilateral orbital atrophy	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Essential iris atrophy of bilateral eyes (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Essential iris atrophy of bilateral eyes (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Essential iris atrophy of right eye (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Essential iris atrophy of left eye (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophy of eye proper of bilateral eyes (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophy of eye proper of bilateral eyes (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Atrophy of optic disc of left eye due to glaucoma	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophy of optic disc of right eye due to glaucoma (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophy of optic disc of bilateral eyes due to glaucoma	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophy of optic disc of bilateral eyes due to glaucoma	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Atrophia cutis senilis	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophic scar (morphologic abnormality)	Is a	True	Atrophy (morphologic abnormality)	Inferred relationship	Some
Dermal elastolysis (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Elastoderma	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
A rare acquired motor neuron disease with characteristics of an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Central papillary atrophy of tongue (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atelectasis of tympanic membrane due to chronic otitis media with effusion (disorder)	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Atelectasis of tympanic membrane due to adhesive otitis media	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	2
Tympanic atelectasis	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1
Atrophic Hashimoto thyroiditis	Associated morphology	True	Atrophy (morphologic abnormality)	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
22797016	Atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
737978016	Atrophy (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1220945019	Atrophic	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2611481000005110	atrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)