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

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of general physiological development\Disorder of stature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of head and neck region\Head finding\...
• \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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism 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, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome
• \Disease\Developmental disorder\Disorder of stature\Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
4634563014	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4634564015	Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4634565019	Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4634566018	Retinitis pigmentosa, deafness, premature ageing, short stature, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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