718575002: syndrome d'ablépharie-macrostomie (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Ablepharon macrostomia syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Orofacial cleft (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral lesion\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of face\Lesion of face (finding)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Ablepharon macrostomia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Ablepharon macrostomia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Ablepharon macrostomia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia 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\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Ablepharon\Ablepharon macrostomia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital macrostomia\Ablepharon macrostomia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3312810019	Ablepharon macrostomia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312816013	Ablepharon macrostomia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752391000241117	syndrome d'ablépharie-macrostomie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
872451000172112	syndrome d'ablépharie-macrostomie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3312817016	An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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