699298009: Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Deformity (finding)\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Congenital anomaly of limb\Polymelia\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\Finding of thyroid gland\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Polymelia\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\Congenital disease\Congenital hypothyroidism\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\trouble du développement\Developmental hereditary disorder\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\malformation congénitale du visage\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \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)\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Polymelia\polydactylie\Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2983642016	Say-Barber-Biesecker-Young-Simpson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983655015	Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983711017	Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2983721013	Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983738012	Young-Simpson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3782735016	Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066754016	Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5066755015	Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3782734017	Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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