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363343008: Hereditary disorder of the visual system (disorder)

Status: current, Defined. 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 Active Case insensitive SNOMED CT core
755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Case insensitive SNOMED CT core

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 Some
Hereditary disorder of the visual system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the visual system Finding site Structure of visual system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Oculocutaneous albinism Is a True Hereditary disorder of the visual system Inferred relationship Some
Lenz microphthalmia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Nance-Horan syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Peters plus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
SOX2 anophthalmia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Is a True Hereditary disorder of the visual system Inferred relationship Some
Duane-radial ray syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
11p partial monosomy syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Aicardi's syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of the visual system Inferred relationship Some
Hyperferritinemia cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a True Hereditary disorder of the visual system Inferred relationship Some
Albinotic fundus Is a True Hereditary disorder of the visual system Inferred relationship Some
Ophthalmo-acromelic syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Retinal detachment and occipital encephalocoele Is a True Hereditary disorder of the visual system Inferred relationship Some
Primary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of the visual system Inferred relationship Some
Primary Sjögren's syndrome with multisystem involvement Is a False Hereditary disorder of the visual system Inferred relationship Some
Secondary Sjögren's syndrome with organ/system involvement Is a False Hereditary disorder of the visual system Inferred relationship Some
Secondary Sjögren's syndrome with multisystem involvement Is a False Hereditary disorder of the visual system Inferred relationship Some
Congenital blue dot cataract Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital sutural cataract Is a True Hereditary disorder of the visual system Inferred relationship Some
Bradyopsia Is a True Hereditary disorder of the visual system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts Is a True Hereditary disorder of the visual system Inferred relationship Some
Cryptophthalmos syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant keratitis Is a True Hereditary disorder of the visual system Inferred relationship Some
X-linked corneal dermoid Is a True Hereditary disorder of the visual system Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Aplasia of lacrimal and salivary gland Is a True Hereditary disorder of the visual system Inferred relationship Some
GMS syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Spondylo-ocular syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
X-linked retinal dysplasia Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Seemanova Lesny syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Wellesley Carman French syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Nathalie syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Heide syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant pterygium of conjunctiva Is a True Hereditary disorder of the visual system Inferred relationship Some
Hereditary vitreoretinopathy Is a True Hereditary disorder of the visual system Inferred relationship Some
Microcornea with glaucoma and absent frontal sinus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Isolated congenital alacrima Is a False Hereditary disorder of the visual system Inferred relationship Some
Syndromic orbital border hypoplasia Is a True Hereditary disorder of the visual system Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Joubert syndrome with ocular defect Is a True Hereditary disorder of the visual system Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Behr syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Abruzzo Erickson syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Ablepharon macrostomia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Orofaciodigital syndrome type 9 Is a True Hereditary disorder of the visual system Inferred relationship Some
Isolated cryptophthalmos Is a True Hereditary disorder of the visual system Inferred relationship Some
X-linked cone dysfunction syndrome with myopia Is a True Hereditary disorder of the visual system Inferred relationship Some
Syndromic microphthalmia type 5 Is a True Hereditary disorder of the visual system Inferred relationship Some
Spondyloepiphyseal dysplasia MacDermot type Is a True Hereditary disorder of the visual system Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type Is a True Hereditary disorder of the visual system Inferred relationship Some
Cataract glaucoma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Brittle cornea syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microcornea with corectopia and macular hypoplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Vici syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Temtamy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Glaucoma and sleep apnoea syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with brain atrophy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Acro-oto-ocular syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Acrorenoocular syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Aniridia and absent patella syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Aniridia and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Anophthalmia plus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Aplasia cutis with myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
CHIME syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cerebroretinal vasculopathy Is a False Hereditary disorder of the visual system Inferred relationship Some
Frank-Ter Haar syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type Is a True Hereditary disorder of the visual system Inferred relationship Some
Siegler Brewer Carey syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Hereditary vascular retinopathy Is a False Hereditary disorder of the visual system Inferred relationship Some
HERNS syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with brain and digit anomaly Is a True Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia with linear skin defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Robinow-like syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Blindness, scoliosis, arachnodactyly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Joubert syndrome with oculorenal defect Is a True Hereditary disorder of the visual system Inferred relationship Some
Lowry MacLean syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
High myopia and sensorineural deafness Is a True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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