79410001: Congenital cataract (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract

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 cataract	Is a	Kongenitale Anomalie der Linse	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract	Is a	Cataract	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract	Associated morphology	Congenital opacity	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract	Associated morphology	Opacity	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Associated morphology	Congenital cataract	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital cataract	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Associated morphology	Cataract	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Finding site	Structure of lens of eye (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract	Associated morphology	Opacity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital lamellar cataract (disorder)	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital blue dot cataract (disorder)	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital membranous cataract	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital polar cataract (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital sutural cataract (disorder)	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Rubella cataract	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital zonular cataract	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital capsular cataract	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital total cataract	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Embryonal nuclear cataract (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital subtotal cataract	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cortical cataract (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital subcapsular cataract	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract and lens anomalies	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract, unspecified	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Family history of congenital cataract (situation)	Associated finding	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Family history of congenital cataract (situation)	Associated finding	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Family history of congenital cataract (situation)	Associated finding	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nance-Horan syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital combined form cataract	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Nathalie syndrome	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Absence deformity of leg and congenital cataract syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterised 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.	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Siegler Brewer Carey syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Is a	True	Congenital cataract	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	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
MEDNIK-Syndrom	Is a	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome	Is a	True	Congenital cataract	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	Congenital cataract	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	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Crome syndrome	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Cataract and microcornea syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Cataract, congenital heart disease, neural tube defect syndrome	Is a	True	Congenital cataract	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	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract ichthyosis syndrome	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract of left eye	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract of right eye	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Cortical and zonular cataract	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Warburg micro syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Mittendorf's dot (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Marinesco-Sjögren syndrome (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Coralliform cataract (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Hutterite type cataract (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Pulverulent cataract (disorder)	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
Lowe syndrome	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.	Is a	True	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
131752015	Congenital cataract	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820457017	Congenital cataract (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
131752015	Congenital cataract	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
131752015	Congenital cataract	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820457017	Congenital cataract (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
820457017	Congenital cataract (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
933641000195117	cataratta congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
499281000274115	Angeborener Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
499291000274118	Kongenitaler Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
543681000274116	Cataracta congenita	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
307271000077115	cataracte congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
307271000077115	cataracte congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
933641000195117	cataratta congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
499281000274115	Angeborener Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
499291000274118	Kongenitaler Katarakt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
543681000274116	Cataracta congenita	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412221001000112	Katarakt, nicht-syndromale, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module