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33706001: 7q partial trisomy (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (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)\7q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4555205019 7q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555206018 7q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1991291000005111 partiel trisomi 7q-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
7q partial trisomy (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
7q partial trisomy (disorder)	Is a	Anomaly of chromosome pair 7	false	Inferred relationship	Some
7q partial trisomy (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
7q partial trisomy (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some
7q partial trisomy (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
7q partial trisomy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
7q partial trisomy (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
7q partial trisomy (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
7q partial trisomy (disorder)	Finding site	Chromosome pair 7	false	Inferred relationship	Some	1
7q partial trisomy (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some
7q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
7q partial trisomy (disorder)	Finding site	Chromosome pair 7	true	Inferred relationship	Some	1
7q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
7q partial trisomy (disorder)	Is a	Partial trisomy of chromosome 7 (disorder)	true	Inferred relationship	Some
7q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
7q partial trisomy (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
7q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
Distal trisomy 7q (disorder)	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
Medial duplication of long arm of chromosome 7 (disorder)	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some
Proximal duplication of long arm of chromosome 7	Is a	True	7q partial trisomy (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4555205019	7q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555206018	7q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1991291000005111	partiel trisomi 7q-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)