1303582008: Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome (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\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Visual system 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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Visual system 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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Visual system 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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of sensory organ (disorder)\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of sensory organ (disorder)\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Genetic disease\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of body system\Visual system 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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of body system\Visual system 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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of body system\Visual system 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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \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)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Aphakia\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\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 aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital aphakia (disorder)\Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5307034013	Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5307035014	Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5307036010	A rare genetic disorder involving multiple structures of the eye. The disease is characterised by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous haemorrhages). No extraocular manifestations are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5307037018	A rare genetic disorder involving multiple structures of the eye. The disease is characterized by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5307034013	Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5307035014	Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5307036010	A rare genetic disorder involving multiple structures of the eye. The disease is characterised by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous haemorrhages). No extraocular manifestations are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5307037018	A rare genetic disorder involving multiple structures of the eye. The disease is characterized by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Component annotation with string value reference set (foundation metadata concept)

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