128306009: Cataract (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

206591012 Cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

732283013 Cataract (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cataract	Is a	Abnormally opaque structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.	Associated morphology	False	Cataract	Inferred relationship	Some	1
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	Associated morphology	False	Cataract	Inferred relationship	Some	2
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	Associated morphology	False	Cataract	Inferred relationship	Some	1
A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.	Associated morphology	False	Cataract	Inferred relationship	Some	1
A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.	Associated morphology	False	Cataract	Inferred relationship	Some	2
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.	Associated morphology	False	Cataract	Inferred relationship	Some	3
Congenital cataract ichthyosis syndrome	Associated morphology	False	Cataract	Inferred relationship	Some	1
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital polar cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	Associated morphology	False	Cataract	Inferred relationship	Some	2
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital subcapsular cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital cataract of bilateral eyes (disorder)	Associated morphology	False	Cataract	Inferred relationship	Some	2
Congenital cataract of bilateral eyes (disorder)	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital cataract of right eye	Associated morphology	False	Cataract	Inferred relationship	Some	1
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.	Associated morphology	False	Cataract	Inferred relationship	Some	2
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital blue dot cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.	Associated morphology	False	Cataract	Inferred relationship	Some	3
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.	Associated morphology	False	Cataract	Inferred relationship	Some	1
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.	Associated morphology	False	Cataract	Inferred relationship	Some	3
Congenital capsular cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital combined form cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital anterior polar cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital posterior polar cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
Congenital sutural cataract	Associated morphology	False	Cataract	Inferred relationship	Some	1
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.	Associated morphology	False	Cataract	Inferred relationship	Some	1
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Associated morphology	False	Cataract	Inferred relationship	Some	1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Associated morphology	False	Cataract	Inferred relationship	Some	1
Surgery of cataract of left eye (procedure)	Direct morphology	False	Cataract	Inferred relationship	Some	1
Surgery of cataract of right eye (procedure)	Direct morphology	False	Cataract	Inferred relationship	Some	1
Localised cataract opacities due to and following traumatic injury	Associated morphology	False	Cataract	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
206591012	Cataract	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732283013	Cataract (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core