770728003: syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-bulles filtrantes spontanées (trouble)

• 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \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)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \affection de la tête\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)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb 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\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1010421000172110	syndrome FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering blebs)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3702276014	Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702277017	Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702278010	Traboulsi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702279019	Facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702280016	FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
769811000241115	syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-bulles filtrantes spontanées (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
968081000172113	syndrome de dysmorphie faciale-luxation du cristallin-anomalies du segment antérieur-bulles filtrantes spontanées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3702281017	A syndromic developmental defect of the eye with characteristics of dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. There is evidence the syndrome is caused by homozygous mutation in the ASPH gene on chromosome 8q12.	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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