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1162478006: Deletion of part of long arm of chromosome 16 (disorder)

Status: current, 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
4589698018 Partial deletion of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589699014 Deletion of part of long arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589700010 Deletion of part of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5887361000241117 délétion partielle du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5887371000241113 délétion d'une partie du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial deletion of long arm of chromosome 16 Is a Deletion of part of chromosome 16 (disorder) true Inferred relationship Some
Partial deletion of long arm of chromosome 16 Occurrence Congenital true Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Finding site Long arm of chromosome true Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Occurrence Congenital true Inferred relationship Some 2
Partial deletion of long arm of chromosome 16 Finding site Chromosome pair 16 true Inferred relationship Some 2
Partial deletion of long arm of chromosome 16 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). Is a True Partial deletion of long arm of chromosome 16 Inferred relationship Some
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Is a True Partial deletion of long arm of chromosome 16 Inferred relationship Some
Distal deletion of long arm of chromosome 16 Is a True Partial deletion of long arm of chromosome 16 Inferred relationship Some
Proximal deletion of long arm of chromosome 16 (disorder) Is a True Partial deletion of long arm of chromosome 16 Inferred relationship Some

This concept is not in any reference sets

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