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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Infantile and/or juvenile cataract\Juvenile cataract\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
5045346019	Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5045347011	Retinal dystrophy, juvenile cataract, short stature syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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