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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331175010	Severe X-linked intellectual disability Gustavson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402862012	A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402863019	A rare, genetic, X-linked syndromic intellectual disability disorder characterised by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331173015	Severe X-linked intellectual disability Gustavson type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331175010	Severe X-linked intellectual disability Gustavson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331176011	This syndrome has characteristics of X-linked mental retardation, 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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5277857013	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 early childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402862012	A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402863019	A rare, genetic, X-linked syndromic intellectual disability disorder characterised by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446591001000116	Schwere X-chromosomale Intelligenzminderung Typ Gustavson	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
984271000172113	déficience intellectuelle sévère liée à l'X type Gustavson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
984271000172113	déficience intellectuelle sévère liée à l'X type Gustavson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446591001000116	Schwere X-chromosomale Intelligenzminderung Typ Gustavson	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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