127329003: Congenital anomaly of visual system (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of visual system	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Congenital anomaly of visual system	Is a	Visual system disorder (disorder)	true	Inferred relationship	Some
Congenital anomaly of visual system	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of visual system	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of visual system	Finding site	The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways	true	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of visual system	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital anomaly of visual system	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Congenital anomaly of visual system	Finding site	The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways	false	Inferred relationship	Some	3
Congenital anomaly of visual system	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital anomaly of visual system	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of visual system	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of visual system	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital anomaly of eye	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
Congenital anomaly of optic nerve	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital strabismus	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Encephalocele of orbit	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
Alstrom syndrome	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
Aicardi's syndrome	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
Congenital blindness	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Cerebral-retinal arteriovenous aneurysm (disorder)	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
Cilioretinal artery	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
Congenital anomaly of ocular adnexa	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital anomaly of eye	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital vascular anomaly of eye	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital malformation of eye, ear and neck (disorder)	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital malformation of the eyebrow	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
A rare skin disorder characterized by the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Encephalocraniocutaneous lipomatosis (disorder)	Is a	False	Congenital anomaly of visual system	Inferred relationship	Some
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Ocular motor apraxia Cogan type (disorder)	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some
Congenital hypoplasia of optic tract (disorder)	Is a	True	Congenital anomaly of visual system	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
617018	Congenital anomaly of visual system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731404017	Congenital anomaly of visual system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5901021000241113	anomalie congénitale du système visuel	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
562581000274116	Kongenitale Anomalie des visuellen Systems	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
630151000274115	Kongenitale Fehlbildung des visuellen Systems	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module