763815000: syndrome oculo-auriculaire type Schorderet (trouble)

• SNOMED CT Concept\constatation clinique\...
• \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)\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\syndrome oculo-auriculaire type Schorderet
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos de l'oreille et de l'audition\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \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\syndrome oculo-auriculaire type Schorderet
• \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\syndrome oculo-auriculaire type Schorderet
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\syndrome oculo-auriculaire type Schorderet
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\syndrome oculo-auriculaire type Schorderet
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\syndrome oculo-auriculaire type Schorderet
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome oculo-auriculaire type Schorderet
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome oculo-auriculaire type Schorderet
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\syndrome oculo-auriculaire type Schorderet
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\syndrome oculo-auriculaire type Schorderet
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\syndrome oculo-auriculaire type Schorderet
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \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\syndrome oculo-auriculaire type Schorderet
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\syndrome oculo-auriculaire type Schorderet
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome oculo-auriculaire type Schorderet
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \Disease\trouble du développement\Developmental hereditary disorder\syndrome oculo-auriculaire type Schorderet
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome oculo-auriculaire type Schorderet
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\syndrome oculo-auriculaire type Schorderet
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\syndrome oculo-auriculaire type Schorderet

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1019401000172111	syndrome oculo-auriculaire type Schorderet	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3644087014	Oculoauricular syndrome Schorderet type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3644088016	Oculoauricular syndrome Schorderet type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
766611000241113	syndrome oculo-auriculaire type Schorderet (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3644093018	A rare genetic developmental defect during embryogenesis with characteristics of various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus and lobule aplasia). There is evidence the disease is caused by homozygous mutation in the HMX1 gene on chromosome 4p16.	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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