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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\Lesion of face (finding)\lésion de la paupière\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\lésion de la paupière\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\Lid margin finding\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\lésion de la paupière\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\Lid margin finding\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308716017	Microphthalmia with ankyloblepharon and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308717014	Syndromic microphthalmia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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