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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Peripheral myelin protein 22-retinoic acid induced 1 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\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Peripheral myelin protein 22-retinoic acid induced 1 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\Peripheral myelin protein 22-retinoic acid induced 1 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\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 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\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Congenital disease\Congenital malformation\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Developmental disorder\Congenital malformation\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

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 SNOMED CT core module

4636392012 PMP22-RAI1 contiguous gene duplication syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4636393019 17p11.2p12 microduplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

4636394013 Yuan Harel Lupski syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4636395014 Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4636396010 Trisomy 17p11.2p12 en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Is a	Hereditary motor and sensory neuropathy	true	Inferred relationship	Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Is a	17q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Existential restriction modifier	2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier	3
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier	3
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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	SNOMED CT core module
4636392012	PMP22-RAI1 contiguous gene duplication syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4636393019	17p11.2p12 microduplication syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4636394013	Yuan Harel Lupski syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4636395014	Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4636396010	Trisomy 17p11.2p12	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module