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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (disorder)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (disorder)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636392012	PMP22-RAI1 contiguous gene duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636393019	17p11.2p12 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4636394013	Yuan Harel Lupski syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636395014	Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636396010	Trisomy 17p11.2p12	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5399428015	A rare partial duplication of the long arm of chromosome 17 characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399429011	A rare partial duplication of the long arm of chromosome 17 characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636391017	Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636392012	PMP22-RAI1 contiguous gene duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636393019	17p11.2p12 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4636394013	Yuan Harel Lupski syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636395014	Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636396010	Trisomy 17p11.2p12	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399428015	A rare partial duplication of the long arm of chromosome 17 characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399429011	A rare partial duplication of the long arm of chromosome 17 characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442861001000112	PMP22-RAI1-Contiguous gene duplication-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6467331000241115	syndrome de duplication de gènes contigus PMP22-RAI1 (peripheral myelin protein 22-retinoic acid induced 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6467341000241113	syndrome de microduplication 17p11.2p12	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6467351000241111	syndrome de Yuan-Harel-Lupski	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6467331000241115	syndrome de duplication de gènes contigus PMP22-RAI1 (peripheral myelin protein 22-retinoic acid induced 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6467341000241113	syndrome de microduplication 17p11.2p12	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6467351000241111	syndrome de Yuan-Harel-Lupski	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442861001000112	PMP22-RAI1-Contiguous gene duplication-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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