722055008: syndrome oculo-palato-cérébral (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)\Oculopalatocerebral syndrome (disorder)
• \Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Oculopalatocerebral syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Persistent primary vitreous (disorder)\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
• \Disease\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Oculopalatocerebral syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Oculopalatocerebral syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\reliquat embryonnaire\Persistent primary vitreous (disorder)\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Oculopalatocerebral syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Oculopalatocerebral syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Oculopalatocerebral syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\reliquat embryonnaire\Persistent primary vitreous (disorder)\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (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
3330404012	Oculopalatocerebral syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330405013	Oculopalatocerebral syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330406014	Oculo-palato-cerebral syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330407017	Oculo-palato-cerebral dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758101000241114	syndrome oculo-palato-cérébral (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
970281000172110	nanisme oculo-palato-cérébral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
983201000172119	syndrome oculo-palato-cérébral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330408010	The association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. It has been described in five patients (three boys and two girls). The clinical manifestations are evident from birth. The palate anomaly is usually cleft palate. In the majority of cases, postnatal growth is marked by statural and ponderal retardation. Microcephaly is present in all patients.Persistent hyperplastic primary vitreous was present in all cases reported so far. Facial dysmorphology has characteristics of full cheeks, a bulbous nasal tip and long ears with thickened helices. Hands and feet are small. Anomalies of the external genitalia were reported in some of the male patients, with two of the boys displaying cryptorchidism. Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. Intellectual deficit (moderate to severe) is a constant feature. So far, neither a causative gene nor locus has been identified.	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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