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13331008: 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:

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
1083641000241115 atrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

50 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atrophy Is a Degenerative abnormality false Inferred relationship Some
Atrophy Is a dégénérescence false Inferred relationship Some
Atrophy Is a Degenerative abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Placenta fenestrata Associated morphology True Atrophy 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 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 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 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 Inferred relationship Some 1
Atrophic cervicitis (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Benign monomelic amyotrophy of lower limb (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Benign monomelic amyotrophy of upper limb (disorder) Associated morphology True Atrophy 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 Inferred relationship Some 2
Acquired cerebellar atrophy Associated morphology True Atrophy 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 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 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 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 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 Inferred relationship Some 1
Denture stomatitis Associated morphology True Atrophy Inferred relationship Some 4
Chronic atrophic candidiasis Associated morphology True Atrophy Inferred relationship Some 1
Phthisis bulbi of left eye (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Phthisis bulbi of right eye (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Necrobiosis lipoidica, granulomatous type Associated morphology True Atrophy Inferred relationship Some 3
Necrobiosis lipoidica diabeticorum Associated morphology True Atrophy Inferred relationship Some 3
Granulomatosis disciformis et progressiva Associated morphology True Atrophy Inferred relationship Some 4
Necrobiosis lipoidica, necrobiotic type Associated morphology True Atrophy Inferred relationship Some 3
Necrobiosis lipoidica Associated morphology True Atrophy Inferred relationship Some 3
Atrophy of right orbit (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of left orbit (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Bilateral orbital atrophy Associated morphology True Atrophy Inferred relationship Some 1
Bilateral orbital atrophy Associated morphology True Atrophy Inferred relationship Some 2
Essential iris atrophy of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Essential iris atrophy of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Essential iris atrophy of right eye (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Essential iris atrophy of left eye (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of eye proper of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of eye proper of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of optic disc of left eye due to glaucoma Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of optic disc of right eye due to glaucoma (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of optic disc of bilateral eyes due to glaucoma Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of optic disc of bilateral eyes due to glaucoma Associated morphology True Atrophy Inferred relationship Some 2
Atrophia cutis senilis Associated morphology True Atrophy Inferred relationship Some 1
Atrophic scar (morphologic abnormality) Is a True Atrophy Inferred relationship Some
Dermal elastolysis (disorder) Associated morphology True Atrophy 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 Inferred relationship Some 2
Elastoderma Associated morphology True Atrophy 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 Inferred relationship Some 1
Central papillary atrophy of tongue (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atelectasis of tympanic membrane due to chronic otitis media with effusion (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Atelectasis of tympanic membrane due to adhesive otitis media Associated morphology True Atrophy Inferred relationship Some 2
Tympanic atelectasis Associated morphology True Atrophy Inferred relationship Some 1
Atrophic Hashimoto thyroiditis Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cortex of frontal and temporal lobe Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cortex of frontal and temporal lobe Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of axon of peripheral nerve structure (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of axon of peripheral nerve structure (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Bilateral atrophy of kidney Associated morphology True Atrophy Inferred relationship Some 1
Bilateral atrophy of kidney Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of cortex of occipital lobe (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of brainstem Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cortex of parietal lobe Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cortex of kidney (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cortex of temporal lobe Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of Purkinje cells of cerebellar cortex Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of axial muscle Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cerebellar vermis Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cortex of frontal lobe (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of cervical spinal cord Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of levator palpebrae superioris muscle Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of intrinsic muscle of hand Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of motor neuron cell (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of flexor digitorum longus muscle (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of fovea centralis (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of duodenum (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of hippocampus Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of fundus of eye Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of hypothalamus (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of hilum of dentate nucleus (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of masseter muscle Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of first dorsal interosseous muscle of hand (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of inner granular layer of cerebellar cortex Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of first dorsal interosseous muscle of foot (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of lower leg (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of forearm (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of lower limb (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of upper arm and hip and/or thigh Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of upper arm and hip and/or thigh Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of muscle of upper arm (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of upper limb (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of shoulder (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of lower leg and forearm Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of lower leg and forearm Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of muscle of hand Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of sternocleidomastoid muscle (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of sural nerve (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of renal tubule Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of thenar muscle (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of superior rectus muscle (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of proximal muscle Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of tibialis anterior muscle Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of scapular muscle (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of peroneal muscle (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of caudate nucleus (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of pons and cerebellum (disorder) Associated morphology True Atrophy Inferred relationship Some 1

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