1229872004: Xq25 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Xq25 microduplication 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\Xq25 microduplication syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Xq25 microduplication syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Xq25 microduplication syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Xq25 microduplication syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Xq25 microduplication syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Xq25 microduplication syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xq25 microduplication syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Xq25 microduplication syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Xq25 microduplication syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Xq25 microduplication syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Xq25 microduplication syndrome
\Disease\Developmental disorder\Developmental delay\Xq25 microduplication syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5065543019 Xq25 microduplication syndrome en Synonym Active Case sensitive SNOMED CT core

5065544013 Xq25 microtriplication en Synonym Active Case sensitive SNOMED CT core

5065545014 Xq25 microduplication syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5065546010 A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioural problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. en Definition Active Case sensitive SNOMED CT core

5065547018 A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Xq25 microduplication syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	Developmental delay	true	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Xq25 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Xq25 microduplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Xq25 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Xq25 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Xq25 microduplication syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	2
Xq25 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Xq25 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Xq25 microduplication syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Xq25 microduplication syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Xq25 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Xq25 microduplication syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Xq25 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Xq25 microduplication syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Xq25 microduplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5065543019	Xq25 microduplication syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5065544013	Xq25 microtriplication	en	Synonym	Active	Case sensitive	SNOMED CT core
5065545014	Xq25 microduplication syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5065546010	A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioural problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.	en	Definition	Active	Case sensitive	SNOMED CT core
5065547018	A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.	en	Definition	Active	Case sensitive	SNOMED CT core