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

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\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\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract, hearing loss, severe developmental delay syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing 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\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\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\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract, hearing loss, severe developmental delay syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract, hearing loss, severe developmental delay syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital cataract, hearing loss, severe developmental delay syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\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\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\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\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\Hereditary disorder of the visual system\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\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\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing 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\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\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\Anomaly of eye\Lesion of eye\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\Anomaly of eye\Degenerative disorder of eye\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\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\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\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\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\Disorder of anterior segment of eye\Disorder of lens\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\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\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\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Disorder of head\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\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract, hearing loss, severe developmental delay syndrome
\Disease\Developmental disorder\Developmental delay\Congenital cataract, hearing loss, severe developmental delay syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3725383015 Congenital cataract, hearing loss, severe developmental delay syndrome en Synonym Active Case insensitive SNOMED CT core

3725384014 Congenital cataract, deafness, severe developmental delay syndrome en Synonym Active Case insensitive SNOMED CT core

3725385010 Lethal neurodegenerative disorder due to copper transport defect en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital cataract, hearing loss, severe developmental delay syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Developmental delay	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital cataract, hearing loss, severe developmental delay syndrome	Finding site	Ear structure	true	Inferred relationship	Some	1
Congenital cataract, hearing loss, severe developmental delay syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Some	2
Congenital cataract, hearing loss, severe developmental delay syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	3
Congenital cataract, hearing loss, severe developmental delay syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Congenital cataract, hearing loss, severe developmental delay syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	3
Congenital cataract, hearing loss, severe developmental delay syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	3
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3725382013	Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3725383015	Congenital cataract, hearing loss, severe developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3725384014	Congenital cataract, deafness, severe developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3725385010	Lethal neurodegenerative disorder due to copper transport defect	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core