774149004: Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe intellectual disability (disorder)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

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

\Finding of head circumference\Microcephaly (finding)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

\Disorder of head (disorder)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe intellectual disability (disorder)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
\Disease\Disorder of head (disorder)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
\Disease\Chronic disease\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability (disorder)\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3728141015 IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3728142010 Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728143017 IQSEC2-related syndromic intellectual disability en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3728144011 Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728145012 A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3728146013 A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

876921000172114 déficience intellectuelle syndromique associée à IQSEC2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1000541000172115 syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

917431000172116 ernstige intellectuele achterstand, progressieve postnatale microcefalie, stereotiepe handbewegingen op middellijn-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1015951000172117 iQSEC2-gerelateerde syndromale intellectuele achterstand nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	Severe intellectual disability (disorder)	true	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	Microcephaly (finding)	true	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	Disorder of head (disorder)	true	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	Chronic mental disorder	false	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	3
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	4
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	Chronic disease	true	Inferred relationship	Some

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
3728141015	IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728142010	Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728143017	IQSEC2-related syndromic intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728144011	Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728145012	A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728146013	A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
876921000172114	déficience intellectuelle syndromique associée à IQSEC2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1000541000172115	syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
917431000172116	ernstige intellectuele achterstand, progressieve postnatale microcefalie, stereotiepe handbewegingen op middellijn-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1015951000172117	iQSEC2-gerelateerde syndromale intellectuele achterstand	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)