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726373003: Deletion of part of long arm of chromosome 5 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3464718015 Deletion of part of long arm of chromosome 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464719011 Deletion of part of long arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5916231000241110 délétion d'une partie du bras long du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5916241000241117 délétion partielle du bras long du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of long arm of chromosome 5 (disorder) Is a Deletion of part of chromosome 5 (disorder) true Inferred relationship Some
Deletion of part of long arm of chromosome 5 (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) Finding site Chromosome pair 5 false Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
Deletion of part of long arm of chromosome 5 (disorder) Occurrence Congenital true Inferred relationship Some 3
Deletion of part of long arm of chromosome 5 (disorder) Finding site Chromosome pair 5 true Inferred relationship Some 3
Deletion of part of long arm of chromosome 5 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a True Deletion of part of long arm of chromosome 5 (disorder) Inferred relationship Some
Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3. The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. Is a True Deletion of part of long arm of chromosome 5 (disorder) Inferred relationship Some
5q31.3 microdeletion syndrome (disorder) Is a True Deletion of part of long arm of chromosome 5 (disorder) Inferred relationship Some
5q22.2 deletion syndrome Is a True Deletion of part of long arm of chromosome 5 (disorder) Inferred relationship Some
Medial deletion of long arm of chromosome 5 (disorder) Is a True Deletion of part of long arm of chromosome 5 (disorder) Inferred relationship Some
Proximal deletion of long arm of chromosome 5 Is a True Deletion of part of long arm of chromosome 5 (disorder) Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. Is a True Deletion of part of long arm of chromosome 5 (disorder) Inferred relationship Some

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