1172626003: Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\TELO2-related intellectual disability, neurodevelopmental disorder
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\TELO2-related intellectual disability, neurodevelopmental disorder
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\TELO2-related intellectual disability, neurodevelopmental disorder
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\TELO2-related intellectual disability, neurodevelopmental disorder
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\TELO2-related intellectual disability, neurodevelopmental disorder
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Developmental disorder\Developmental hereditary disorder\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\TELO2-related intellectual disability, neurodevelopmental disorder
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\TELO2-related intellectual disability, neurodevelopmental disorder

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634841013	Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4634842018	TELO2-related intellectual disability, neurodevelopmental disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
4634843011	Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder	en	Synonym	Active	Case insensitive	SNOMED CT core
4634844017	You Hoover Fong syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4634845016	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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