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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634842018	TELO2-related intellectual disability, neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634843011	Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634844017	You Hoover Fong syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399354010	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399355011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634841013	Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634842018	TELO2-related intellectual disability, neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634843011	Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634844017	You Hoover Fong syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399354010	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399355011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385771001000115	TELO2-assoziierte Intelligenzminderung mit neurologischer Entwicklungsstörung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385771001000115	TELO2-assoziierte Intelligenzminderung mit neurologischer Entwicklungsstörung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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