FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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

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

Page 1 of 3 Next End

This concept is not in any reference sets

Back to Start