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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract	Is a	Cataract	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract	Is a	Congenital opacity	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital total cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital polar cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital subcapsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Embryonal nuclear cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract and lens anomalies	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rubella cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cortical cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cortical and zonular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Total and subtotal congenital cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital subtotal cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Nance-Horan syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital zonular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital lamellar cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital posterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital blue dot cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital membranous cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital capsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital sutural cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital combined form cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital subcapsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital capsular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital posterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital polar cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cortical cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital posterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital anterior polar cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital polar cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Embryonal nuclear cataract (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital zonular cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	2
Nathalie syndrome	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
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.	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Rubella cataract	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Absence deformity of leg and congenital cataract syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cataract glaucoma syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cataract glaucoma syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
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.	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Siegler Brewer Carey syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	7
MEDNIK-Syndrom	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital cataract with deafness and hypogonadism syndrome	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	6
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.	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Crome syndrome	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cataract and microcornea syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Cataract, congenital heart disease, neural tube defect syndrome	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Congenital cataract ichthyosis syndrome	Associated morphology	False	Congenital cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	6

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

SAME AS 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
2967905018	Congenital cataract	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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