722055008: oculopalatocerebraal syndroom (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Oculopalatocerebral syndrome (disorder)
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Oculopalatocerebral syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Oculopalatocerebral syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Oculopalatocerebral syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculopalatocerebral syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Embryological remnant\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oculopalatocerebral syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Oculopalatocerebral syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculopalatocerebral syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Embryological remnant\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
• \Disease\Developmental disorder\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
6801641000146119	oculopalatocerebrale dwerggroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6801651000146116	oculopalatocerebraal syndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6801661000146118	oculopalatocerebraal syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained 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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