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33706001: 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
4499321000241117 trisomie partielle 7q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

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 (disorder) 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 anomalie congénitale 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 anomalie congénitale 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
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. 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

Reference Sets

Description inactivation indicator reference set

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