1229895008: 8q24.3 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\8q24.3 microdeletion syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\8q24.3 microdeletion syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\8q24.3 microdeletion syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\8q24.3 microdeletion syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\8q24.3 microdeletion syndrome

\Disorder of skeletal system\8q24.3 microdeletion syndrome

\Congenital anomaly of musculoskeletal system\8q24.3 microdeletion syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\8q24.3 microdeletion syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\8q24.3 microdeletion syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\8q24.3 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q24.3 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q24.3 microdeletion syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\8q24.3 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\8q24.3 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\8q24.3 microdeletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\8q24.3 microdeletion syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\8q24.3 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q24.3 microdeletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8q partial monosomy syndrome\8q24.3 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\8q24.3 microdeletion syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\8q24.3 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\8q24.3 microdeletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\8q24.3 microdeletion syndrome
\Disease\Developmental disorder\Developmental delay\8q24.3 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5065663019 8q24.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5065664013 Verheij syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5065665014 Deletion 8q24.3 en Synonym Active Entire term case insensitive SNOMED CT core module

5065666010 Monosomy 8q24.3 en Synonym Active Entire term case insensitive SNOMED CT core module

5065667018 8q24.3 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
8q24.3 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	8q partial monosomy syndrome	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Is a	Disorder of skeletal system	true	Inferred relationship	Existential restriction modifier
8q24.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
8q24.3 microdeletion syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier	1
8q24.3 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
8q24.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
8q24.3 microdeletion syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	2
8q24.3 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
8q24.3 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
8q24.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
8q24.3 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
8q24.3 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
8q24.3 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
8q24.3 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
8q24.3 microdeletion syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier	4
8q24.3 microdeletion syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier	4
8q24.3 microdeletion syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
8q24.3 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
8q24.3 microdeletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
8q24.3 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5065663019	8q24.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5065664013	Verheij syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5065665014	Deletion 8q24.3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5065666010	Monosomy 8q24.3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5065667018	8q24.3 microdeletion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module