722213009: déficience intellectuelle sévère liée à l'X type Gustavson (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \maladie dégénérative du système nerveux central\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\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)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \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)
• \affection de la tête\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)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \affection de la tête\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)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\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)\Disorder of optic nerve\...
• \Inherited optic neuropathy\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)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \perte auditive (trouble)\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection dégénérative\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\affection de la tête\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\trouble mental\troubles mentaux du développement\Intellectual disability\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Congenital disease\Congenital atrophy of optic nerve (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\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\Congenital disease\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
• \Disease\trouble du développement\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
758391000241115	déficience intellectuelle sévère liée à l'X type Gustavson (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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