1197059004: Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos du mouvement\mouvement involontaire (constatation)\myoclonie\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \constatation à propos d'un muscle\myoclonie\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Neurological finding\myoclonie\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Tetraplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection musculaire\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection d'une extrémité\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\athétose (trouble)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
• \Disease\trouble du développement\retard de développement\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4694784017	Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694785016	Congenital ichthyosis, microcephalus, tetraplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694786015	Congenital ichthyosis, microcephalus, quadriplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694787012	A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy.	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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