765434008: Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3658494018	Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3658495017	HIVEP2-related intellectual disability	en	Synonym	Active	Case sensitive	SNOMED CT core
3658496016	HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2) related intellectual disability	en	Synonym	Active	Case sensitive	SNOMED CT core
3658497013	Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3658928019	A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene.	en	Definition	Active	Case sensitive	SNOMED CT core
3658929010	A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioural problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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