770404004: Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3700710018	Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3700711019	Autosomal recessive chorioretinopathy and microcephaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3700712014	Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3700713016	A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.	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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