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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Disorder of head\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \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
• \Disease\Disorder of head\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Disease\Chronic disease\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome

Status: current, Primitive. 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	Active	Case sensitive	SNOMED CT core
3728142010	Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3728143017	IQSEC2-related syndromic intellectual disability	en	Synonym	Active	Case sensitive	SNOMED CT core
3728144011	Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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