1197358003: Autosomal recessive dysgenesis of anterior segment of eye (disorder)

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

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Autosomal recessive dysgenesis of anterior segment of eye

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4695983011 Autosomal recessive anterior segment dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4695984017 Autosomal recessive dysgenesis of anterior segment of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4695985016 Autosomal recessive dysgenesis of anterior segment of eye (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4695986015 A rare anterior segment developmental anomaly without extraocular manifestations with characteristics of predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive dysgenesis of anterior segment of eye	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive dysgenesis of anterior segment of eye	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Autosomal recessive dysgenesis of anterior segment of eye	Is a	Congenital anomaly of anterior segment of eye (disorder)	true	Inferred relationship	Some
Autosomal recessive dysgenesis of anterior segment of eye	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive dysgenesis of anterior segment of eye	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive dysgenesis of anterior segment of eye	Finding site	Anterior eyeball segment structure	true	Inferred relationship	Some	1
Autosomal recessive dysgenesis of anterior segment of eye	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive dysgenesis of anterior segment of eye	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4695983011	Autosomal recessive anterior segment dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695984017	Autosomal recessive dysgenesis of anterior segment of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695985016	Autosomal recessive dysgenesis of anterior segment of eye (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695986015	A rare anterior segment developmental anomaly without extraocular manifestations with characteristics of predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core