1220597000: Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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 anterior segment of eye\Disorder of lens\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\affection dégénérative\affection dégénérative de l'œil\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability 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, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Infantile and/or juvenile cataract (disorder)\Juvenile cataract (disorder)\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability 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\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5045345015	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045346019	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045347011	Retinal dystrophy, juvenile cataract, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045348018	A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalised rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045349014	A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).	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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