33359002: Degeneration (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

55660014 Degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

55662018 Degenerative change en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

764753012 Degeneration (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

12461000077110 dégénérescence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
dégénérescence	Is a	Degenerative abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tendinosis of bilateral shoulders (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
Tendinosis of bilateral shoulders (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	4
Acquired hypoganglionosis of large intestine (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
Acquired hypoganglionosis of large intestine (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	4
Autosomal dominant hereditary spastic paraplegia	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Subconjunctival degeneration	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Degeneration of posterior pole of eye	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Miner's knee	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Tendinosis of right knee (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Tendinosis of left knee (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Degeneration of spine	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Lipodermatosclerosis of lower limb due to varicose veins of lower limb	Associated morphology	False	dégénérescence	Inferred relationship	Some	12
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Actinic cheilitis	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
Osteoarthritis of midtarsal joints of bilateral feet (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Osteoarthritis of midtarsal joints of bilateral feet (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Degenerative rupture of lateral meniscus of bilateral knees (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	4
Degenerative rupture of lateral meniscus of bilateral knees (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Mixed dementia is the co-occurrence of Alzheimer disease and cerebrovascular disease.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Acquired hypoganglionosis of large intestine (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Acquired hypoganglionosis of large intestine (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections.	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
A complex hereditary spastic paraplegia characterised by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy is typical.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Band keratopathy of right eye (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bilateral eye band keratopathy	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Bilateral eye band keratopathy	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Band keratopathy of left eye (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Degenerative progressive high myopia of bilateral eyes (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Degenerative progressive high myopia of bilateral eyes (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Degenerative progressive high myopia of left eye (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bilateral nodular degeneration of corneas	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bilateral nodular degeneration of corneas	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Nodular degeneration of left cornea	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Myopic macular degeneration of left eye	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Myopic macular degeneration of right eye (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Degenerative progressive high myopia of right eye	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Nodular degeneration of right cornea (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bilateral pinguecula of eyes	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Pinguecula of left eye (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Vitreous degeneration of right eye (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Vitreous degeneration of left eye (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Vitreous degeneration of bilateral eyes (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Vitreous degeneration of bilateral eyes (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Lattice degeneration of right retina (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Lattice degeneration of right retina (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
Lattice degeneration of left retina (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Lattice degeneration of left retina (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
Lattice degeneration of bilateral retinas (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
Lattice degeneration of bilateral retinas (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	4
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Schisis of right retina	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Schisis of left retina	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Retinoschisis and retinal cysts	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Schisis of bilateral retinas (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Flat retinoschisis	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Aicardi's syndrome	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
Congenital degeneration of nervous system	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Schisis of bilateral retinas (disorder)	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Associated morphology	False	dégénérescence	Inferred relationship	Some	4
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Congenital chorioretinal degeneration	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
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	False	dégénérescence	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported.	Associated morphology	False	dégénérescence	Inferred relationship	Some	3
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Stickler syndrome	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bilateral wrist osteoarthritis	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bilateral wrist osteoarthritis	Associated morphology	False	dégénérescence	Inferred relationship	Some	2
Bilateral shoulder osteoarthritis	Associated morphology	False	dégénérescence	Inferred relationship	Some	1
Bilateral shoulder osteoarthritis	Associated morphology	False	dégénérescence	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
55660014	Degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
55662018	Degenerative change	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
764753012	Degeneration (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12461000077110	dégénérescence	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module