1300119004: SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)

\Disease\Genetic disease\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)
\Disease\Developmental disorder\Developmental delay\Global developmental delay\SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5298184016 SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5298185015 SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5298186019 SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5298187011 SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5298189014 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients. 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
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Is a	Global developmental delay	true	Inferred relationship	Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	4
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (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
5298184016	SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298185015	SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298186019	SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298187011	SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298189014	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core