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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


495 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the visual system est un(e) (attribut) affection du système visuel true Inferred relationship Some
Hereditary disorder of the visual system est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the visual system localisation d'une constatation (attribut) Structure of visual system (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Peters plus syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
SOX2 anophthalmia syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Duane-radial ray syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
11p partial monosomy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Aicardi's syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
paralysie horizontale du regard avec scoliose progressive est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hyperferritinemia cataract syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
fond d'œil albinique (trouble) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Ophthalmo-acromelic syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Retinal detachment and occipital encephalocele est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Primary Sjögren's syndrome with organ/system involvement (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
syndrome de Sjögren primaire avec atteinte multisystémique est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Secondary Sjögren's syndrome with organ/system involvement (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte multisystémique est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Congenital blue dot cataract est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital sutural cataract est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Bradyopsia (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cryptophthalmos syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant keratitis (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
X-linked corneal dermoid (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Spondyloocular syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
X-linked retinal dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
microcéphalie-microcornée type Seemanova est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Heide syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant pterygium of conjunctiva (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hereditary vitreoretinopathy est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Isolated congenital alacrima (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Joubert syndrome with ocular defect (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Behr syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Abruzzo Erickson syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Isolated cryptophthalmos (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
X-linked cone dysfunction syndrome with myopia (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cataract glaucoma syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Brittle cornea syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microcornea with corectopia and macular hypoplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Vici syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Temtamy syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Glaucoma and sleep apnea syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with brain atrophy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
syndrome acrootooculaire est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Aniridia and absent patella syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Anophthalmia plus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Aplasia cutis with myopia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cerebroretinal vasculopathy (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Frank-Ter Haar syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
surdité-cécité-hypopigmentation est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hereditary vascular retinopathy (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with linear skin defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Robinow-like syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Blindness, scoliosis, arachnodactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Joubert syndrome with oculorenal defect (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Deafness and myopia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some

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