609587005: Congenital cataract (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2967905018 Congenital cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2967915012 Congenital 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
Congenital cataract	Is a	Cataract	false	Inferred relationship	Some
Congenital cataract	Is a	Congenital opacity	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital total cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital anterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Congenital polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Congenital subcapsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Embryonal nuclear cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital cataract and lens anomalies	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Rubella cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital cortical cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Cortical and zonular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Total and subtotal congenital cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital subtotal cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	4
Nance-Horan syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Congenital zonular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital lamellar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital posterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	4
Congenital blue dot cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital membranous cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital capsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital sutural cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	4
Congenital combined form cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	1
Congenital subcapsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	1
Congenital capsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	1
Congenital anterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	1
Congenital posterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	1
Congenital cortical cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital posterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Congenital anterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Congenital polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
Embryonal nuclear cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Congenital zonular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
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	Congenital cataract	Inferred relationship	Some	2
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	Congenital cataract	Inferred relationship	Some	4
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	5
Rubella cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
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	Congenital 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	Congenital 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	Congenital cataract	Inferred relationship	Some	3
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	4
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.	Associated morphology	False	Congenital 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	Congenital cataract	Inferred relationship	Some	4
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.	Associated morphology	False	Congenital 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	Congenital cataract	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	7
MEDNIK-Syndrom	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	6
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	Congenital cataract	Inferred relationship	Some	4
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
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	Congenital cataract	Inferred relationship	Some	4
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	3
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	Congenital cataract	Inferred relationship	Some	7
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	7
Congenital cataract ichthyosis syndrome	Associated morphology	False	Congenital cataract	Inferred relationship	Some	2
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.	Associated morphology	False	Congenital cataract	Inferred relationship	Some	6

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
2967905018	Congenital cataract	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2967915012	Congenital cataract (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core