722056009: syndrome oculo-cérébro-facial type Kaufman (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman 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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type (disorder)
• \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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman 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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman 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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman 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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Oculocerebrofacial syndrome Kaufman 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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman 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\Oculocerebrofacial syndrome Kaufman type (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman 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
3330409019	Oculocerebrofacial syndrome Kaufman type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330410012	Oculocerebrofacial syndrome Kaufman type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330411011	Kaufman oculocerebrofacial syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
758111000241111	syndrome oculo-cérébro-facial type Kaufman (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
968951000172119	syndrome oculo-cérébro-facial type Kaufman	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330412016	Syndrome with characteristics of psychomotor retardation, microcephaly, up-slanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. Other anomalies can be present and include long thin hands and feet, ambiguous genitalia, hypertelorism. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the UBE3B gene (608047) on chromosome 12q24.	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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