720410001: Acrootoocular syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Central nervous system finding\Optic disc finding\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Finding of head region\Globe finding\Retina finding\Optic disc finding\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Eye / vision finding\Globe finding\Retina finding\Optic disc finding\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acro-oto-ocular syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Acro-oto-ocular syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Pseudopapilloedema\Acro-oto-ocular syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Acro-oto-ocular syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Acro-oto-ocular syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3320661016	Acrootoocular syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320662011	Acro-oto-ocular syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320663018	Acrootoocular syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320664012	Pseudopapilledema, blepharophimosis and hand anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320665013	Pseudopapilloedema, blepharophimosis and hand anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3320666014	A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core
3320667017	A very rare disorder associating pseudopapilloedema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.	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

Back to Start