773648002: Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe 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)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Congenital cataract, hearing loss, severe 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)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\...
• \Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Hearing loss\Hearing loss associated with syndrome\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Congenital cataract, hearing loss, severe 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)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Congenital cataract, hearing loss, severe 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
3725382013	Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725383015	Congenital cataract, hearing loss, severe developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725384014	Congenital cataract, deafness, severe developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725385010	Lethal neurodegenerative disorder due to copper transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725386011	A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725387019	A rare genetic lethal neurometabolic disease characterised by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalised muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725382013	Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725383015	Congenital cataract, hearing loss, severe developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725384014	Congenital cataract, deafness, severe developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725385010	Lethal neurodegenerative disorder due to copper transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725386011	A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725387019	A rare genetic lethal neurometabolic disease characterised by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalised muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
545171000274111	Huppke-Brendel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428751001000115	Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005281000172117	neurodégénerescence létale par déficit du transport du cuivre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1014801000172113	syndrome de cataracte congénitale-surdité-retard de développement sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005281000172117	neurodégénerescence létale par déficit du transport du cuivre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1014801000172113	syndrome de cataracte congénitale-surdité-retard de développement sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
545171000274111	Huppke-Brendel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428751001000115	Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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