764703002: 7p22.1 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\7p22.1 microduplication syndrome (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\7p22.1 microduplication syndrome (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\7p22.1 microduplication syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\7p22.1 microduplication syndrome (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\7p22.1 microduplication syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\7p22.1 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\7p22.1 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\7p22.1 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7p partial trisomy (disorder)\7p22.1 microduplication syndrome (disorder)

\Developmental disorder\Developmental hereditary disorder\7p22.1 microduplication syndrome (disorder)
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\7p22.1 microduplication syndrome (disorder)

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

3654881019 7p22.1 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3654882014 Trisomy 7p22.1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3654883016 7p22.1 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404359017 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404360010 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterised by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
7p22.1 microduplication syndrome (disorder)	Is a	7p partial trisomy (disorder)	true	Inferred relationship	Some
7p22.1 microduplication syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
7p22.1 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
7p22.1 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
7p22.1 microduplication syndrome (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
7p22.1 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
7p22.1 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
7p22.1 microduplication syndrome (disorder)	Finding site	Chromosome pair 7	true	Inferred relationship	Some	2
7p22.1 microduplication syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
7p22.1 microduplication syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
7p22.1 microduplication syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
7p22.1 microduplication syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
7p22.1 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships

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Active

Source

Characteristic

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Reference Sets

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

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3654881019	7p22.1 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654882014	Trisomy 7p22.1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654883016	7p22.1 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404359017	7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404360010	7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterised by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core