1172605003: Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos du développement physiologique\anomalie staturale\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \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)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \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)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \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)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \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 posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble métabolique\Inborn error of metabolism\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
• \Disease\trouble du développement\anomalie staturale\Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634562016	Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634563014	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634564015	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634565019	Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634566018	Retinitis pigmentosa, deafness, premature ageing, short stature, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634567010	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears) and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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