1351837003: Intellectual disability, cupped ears syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding\External ear finding (finding)\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear, nose and throat finding\Ear finding\External ear finding (finding)\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear and auditory finding\Ear finding\External ear finding (finding)\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Genetic disease\Genetic intellectual disability\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear (disorder)\Congenital abnormality of external ear\A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5415413019	A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415414013	A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415410016	Intellectual disability, cupped ears syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415411017	Snijders Blok-Fisher syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415412012	Intellectual disability, cupped ears syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

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