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

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\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\Intellectual disability\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)

\Body measurement finding\Finding of head circumference\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\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Hereditary disorder of nervous system\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\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\Neurodevelopmental disorder\Intellectual disability\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)
\Disease\Developmental 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Global developmental delay	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	2
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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