782914000: Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Head finding (finding)\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)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height\...
• \Body height below reference range\Short stature\Short stature disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disorder of stature\Short stature disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Abnormally short digit\Brachydactyly\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756672013	Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756673015	Brachydactyly, short stature, retinitis pigmentosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756674014	A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408375013	Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408376014	Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterised by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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