773398005: syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Poor muscle tone (finding)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Poor muscle tone (finding)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Musculoskeletal finding\Poor muscle tone (finding)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection dégénérative\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\trouble métabolique\Mitochondrial cytopathy\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
• \Disease\trouble du développement\retard de développement\Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723387016	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723388014	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723389018	Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771321000241112	syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
996901000172117	syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723390010	A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene.	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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