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:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Absence deformity of leg and congenital cataract syndrome (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cataract glaucoma syndrome (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cataract glaucoma syndrome (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	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. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	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. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital cataract ichthyosis syndrome	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nathalie syndrome	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital polar cataract (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Warburg micro syndrome (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital subcapsular cataract	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract of bilateral eyes (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital cataract of bilateral eyes (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract of right eye	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Congenital blue dot cataract (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract, hearing loss, severe developmental delay syndrome	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Crome syndrome	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital capsular cataract	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital combined form cataract	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anterior polar cataract	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital posterior polar cataract	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital sutural cataract (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Surgery of cataract of left eye (procedure)	Direct morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Surgery of cataract of right eye (procedure)	Direct morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Localised cataract opacities due to and following traumatic injury	Associated morphology	False	Cataract	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

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

REPLACED BY association reference set (foundation metadata concept)

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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
206591012	Cataract	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
206591012	Cataract	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474367012	Cataract (M-54510)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
732283013	Cataract (morphologic abnormality)	en	Fully specified name	Active	Only initial character 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