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363343008: Hereditary disorder of the visual system (disorder)

Status: current, 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
482488013 Hereditary disorder of the visual system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
482488013 Hereditary disorder of the visual system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482488013 Hereditary disorder of the visual system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
607021000274116 Hereditäre Erkrankung des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024451000241114 trouble héréditaire de la vision fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024461000241112 trouble héréditaire du système visuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024471000241116 trouble visuel héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024451000241114 trouble héréditaire de la vision fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024461000241112 trouble héréditaire du système visuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024471000241116 trouble visuel héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
607021000274116 Hereditäre Erkrankung des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

512 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the visual system (disorder) Is a Visual system disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the visual system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the visual system (disorder) Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Moebius syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fundus pulverulentus (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital Horner syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis and vocal cord paralysis syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Optic nerve edema, splenomegaly syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
RAB18 deficiency Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrosomia, microphthalmia, cleft palate syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability with strabismus syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant rhegmatogenous retinal detachment Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rare isolated myopia (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia with presenile cataract syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis et pupillae (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tremor, nystagmus, duodenal ulcer syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Harlequin ichthyosis Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia with tapetoretinal degeneration syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alacrima Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Axenfeld anomaly Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Inherited optic neuropathy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Meretoja Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Marinesco-Sjögren syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distichiasis-lymphedema syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive external ophthalmoplegia (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse mesangial sclerosis with ocular abnormalities Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal dysplasia and retinal aplasia Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coralliform cataract (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined deficiency of sialidase AND beta galactosidase Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rieger syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital palsy of trochlear nerve (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
LAMA5-related multisystemic syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ocular motor apraxia Cogan type (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duane retraction syndrome with congenital deafness Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital nasolacrimal duct obstruction Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Best vitelliform macular dystrophy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fish-eye disease Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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