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363343008: Hereditary disorder of the visual system (disorder)


Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482488013 Hereditary disorder of the visual system en Synonym Active Entire term case insensitive SNOMED CT core module
755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


497 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the visual system Is a Visual system disorder true Inferred relationship Existential restriction modifier
Hereditary disorder of the visual system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of the visual system Finding site Structure of visual system true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Oguchi's disease Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Primary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Primary Sjögren's syndrome with multisystem involvement Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Secondary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Secondary Sjögren's syndrome with multisystem involvement Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Atrophia bulborum hereditaria Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cross syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary optic atrophy Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ocular albinism Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Achromatopsia Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Xanthoma of eyelid Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal dominant cystoid macular edema Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Albinism Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Kearns-Sayre syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta with blue sclerae Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Gyrate atrophy of the choroid AND/OR retina (disorder) Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary retinal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Gouty iritis Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Alstrom syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary choroidal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculopharyngeal muscular dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary corneal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ocular albinism Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Albinoidism Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculocutaneous albinism Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Lenz microphthalmia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Nance-Horan syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Peters plus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
SOX2 anophthalmia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Duane-radial ray syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
11p partial monosomy syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Aicardi's syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hyperferritinemia cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Albinotic fundus Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ophthalmo-acromelic syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Retinal detachment and occipital encephalocele Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital blue dot cataract Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital sutural cataract Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Bradyopsia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cerebroretinal microangiopathy with calcifications and cysts Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cryptophthalmos syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal dominant keratitis Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
X-linked corneal dermoid Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cochleosaccular degeneration and cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Goniodysgenesis with intellectual disability and short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spondyloocular syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
X-linked retinal dysplasia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microcephalus microcornea syndrome of Seemanova type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cataract with aberrant oral frenula and growth delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Deafness with cataract and skeletal anomaly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal dominant pterygium of conjunctiva Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary vitreoretinopathy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microcornea with glaucoma and absent frontal sinus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microphthalmia with ankyloblepharon and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Isolated congenital alacrima Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Syndromic hypoplasia of orbital border Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Encephalopathy due to sulfite oxidase deficiency Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Joubert syndrome with ocular defect Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Behr syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cleft palate with coloboma of eye and deafness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ablepharon macrostomia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 9 Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Isolated cryptophthalmos Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
X-linked cone dysfunction syndrome with myopia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cataract glaucoma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Brittle cornea syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract with ataxia and deafness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microcornea with corectopia and macular hypoplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Vici syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Glaucoma and sleep apnea syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microphthalmia with brain atrophy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Acrootoocular syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Acrorenoocular syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cardiomyopathy with cataract and hip spine disease syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Aniridia and absent patella syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Aniridia and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Anophthalmia plus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Aplasia cutis with myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier

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