1172899000: Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\PMP22-RAI1 contiguous gene duplication syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\PMP22-RAI1 contiguous gene duplication syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\PMP22-RAI1 contiguous gene duplication syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Congenital disease\Congenital anomaly\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Developmental disorder\Congenital anomaly\PMP22-RAI1 contiguous gene duplication syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\PMP22-RAI1 contiguous gene duplication syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4636391017	Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4636392012	PMP22-RAI1 contiguous gene duplication syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4636393019	17p11.2p12 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4636394013	Yuan Harel Lupski syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4636395014	Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4636396010	Trisomy 17p11.2p12	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4636397018	A rare partial duplication of the long arm of chromosome 17 with characteristics of a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles and foot deformities. Facial dysmorphism, cardiac and renal anomalies and syringomyelia may also be observed.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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