722055008: Oculopalatocerebral syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Oculo-palato-cerebral syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Oculo-palato-cerebral syndrome
• \Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Oculo-palato-cerebral syndrome
• \Disorder of head\Disorder of palate\Congenital anomaly of palate\Oculo-palato-cerebral syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Oculo-palato-cerebral syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Oculo-palato-cerebral syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Oculo-palato-cerebral syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Oculo-palato-cerebral syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Oculo-palato-cerebral syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Oculo-palato-cerebral syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculo-palato-cerebral syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculo-palato-cerebral syndrome
• \Disease\Disorder of embryonic structure\Persistent primary vitreous\Persistent hyperplastic primary vitreous\Oculo-palato-cerebral syndrome
• \Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Oculo-palato-cerebral syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Oculo-palato-cerebral syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Oculo-palato-cerebral syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Oculo-palato-cerebral syndrome
• \Disease\Congenital disease\Congenital anomaly\Embryological remnant\Persistent primary vitreous\Persistent hyperplastic primary vitreous\Oculo-palato-cerebral syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Oculo-palato-cerebral syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Oculo-palato-cerebral syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oculo-palato-cerebral syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Oculo-palato-cerebral syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Oculo-palato-cerebral syndrome
• \Disease\Developmental disorder\Congenital anomaly\Embryological remnant\Persistent primary vitreous\Persistent hyperplastic primary vitreous\Oculo-palato-cerebral syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Oculo-palato-cerebral syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Oculo-palato-cerebral syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3330405013	Oculopalatocerebral syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330406014	Oculo-palato-cerebral syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330407017	Oculo-palato-cerebral dwarfism	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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