1284851009: Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Hearing finding (finding)\Decreased hearing (finding)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \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\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Developmental disorder\Developmental delay\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5243627010	Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5243628017	Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5243629013	Liberfarb syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400750011	A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400751010	A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	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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