717222003: Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Finding of face\Eyelid finding\Lid margin finding\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Eyelid finding\Lid margin finding\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308715018	Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308716017	Microphthalmia with ankyloblepharon and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3308717014	Syndromic microphthalmia type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3308718016	This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localized to the Xq27-q28 region.	en	Definition	Active	Case sensitive	SNOMED CT core
3308764014	This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localised to the Xq27-q28 region.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start