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

• SNOMED CT Concept\constatation clinique\Disease\...
• \affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\HIVEP2-related intellectual disability
• \trouble mental\troubles mentaux du développement\Intellectual disability\HIVEP2-related intellectual disability
• \Congenital disease\Congenital malformation\...
• \Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\HIVEP2-related intellectual disability
• \Congenital anomaly of nervous system\HIVEP2-related intellectual disability
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\HIVEP2-related intellectual disability
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\HIVEP2-related intellectual disability
• \trouble du développement\Congenital malformation\Congenital anomaly of nervous system\HIVEP2-related intellectual disability

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3658495017	HIVEP2-related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3658496016	HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2) related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3658497013	Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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