778009001: syndrome de blépharophimosis-déficience intellectuelle type Verloes (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \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 ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\Lesion of face (finding)\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\lésion de la paupière\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Blepharophimosis, intellectual disability syndrome, Verloes type (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
3736404010	Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736405011	Blepharophimosis, intellectual disability syndrome, Verloes type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3736406012	Blepharophimosis, intellectual disability syndrome type V	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
785171000241115	syndrome de blépharophimosis-déficience intellectuelle type Verloes (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
932531000172111	syndrome de blépharophimosis-déficience intellectuelle type Verloes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
962451000172112	BMRS type V	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3736407015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.	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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