722213009: Severe X-linked intellectual disability Gustavson type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe X-linked intellectual disability Gustavson type
• \Central nervous system finding\Disorder of the central nervous system\...
• \Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
• \Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe X-linked intellectual disability Gustavson type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe X-linked intellectual disability Gustavson type
• \Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe X-linked intellectual disability Gustavson type
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe X-linked intellectual disability Gustavson type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked intellectual disability Gustavson type
• \Disease\Degenerative disorder\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Disease\Congenital disease\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331173015	Severe X-linked intellectual disability Gustavson type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3331175010	Severe X-linked intellectual disability Gustavson type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5155244011	This syndrome has characteristics of X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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