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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
Aplasia cutis with myopia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebroretinal vasculopathy Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Frank-Ter Haar syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, ptosis, intellectual disability, familial obesity syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dacryocystitis and osteopoikilosis syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deaf blind hypopigmentation syndrome Yemenite type Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Siegler Brewer Carey syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma of macula with brachydactyly type B syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharoptosis, myopia, ectopia lentis syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
rétinopathie vasculaire héréditaire Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia with brain and digit anomaly Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Robinow-like syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blindness, scoliosis, arachnodactyly syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with oculorenal defect (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lowry MacLean syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MEDNIK-Syndrom Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculocerebrofacial syndrome Kaufman type Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cataract-hypertrichosis-intellectual disability syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Crome syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cataract and microcornea syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duane anomaly, myopathy, scoliosis syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
EDICT syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nasopalpebral lipoma coloboma syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spastic paraplegia type 2 (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pigmented paravenous retinochoroidal atrophy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Revesz syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ring dermoid of cornea Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare systemic disease characterised by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhoea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid haemorrhage. Poikiloderma and premature greying of the hair may be additionally observed. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Helicoid peripapillary chorioretinal degeneration (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isolated hypoplasia of optic nerve (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ptosis, strabismus, ectopic pupil syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract ichthyosis syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hemifacial hyperplasia strabismus syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of eyebrow and syndactyly syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly myopia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalocornea with intellectual disability syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isolated congenital megalocornea Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of eye co-occurrent and due to Marfan syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal coloboma syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
White forelock with malformations syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, alacrima, achalasia syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculoauricular syndrome Schorderet type (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculopharyngodistal myopathy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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)

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