773398005: syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay 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\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \General finding of soft tissue\Poor muscle tone (finding)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay 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\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\...
• \Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Muscle finding\Muscle tone - finding\Poor muscle tone (finding)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Muscle finding\Disorder of muscle\Congenital myopathy (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Musculoskeletal finding\Poor muscle tone (finding)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay 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\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Developmental disorder\Developmental delay\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723387016	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723388014	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723389018	Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6947661000146110	syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6947671000146116	syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6947681000146119	syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en vertraging in ontwikkeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3723390010	A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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