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57361003: Anomaly of chromosome pair 5 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
95401013 Anomaly of chromosome pair 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795975015 Anomaly of chromosome pair 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
898951000172112 anomalie du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

24 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 5 Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 5 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome pair 5 Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome pair 5 Finding site Sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 5 Finding site Chromosome pair 5 false Inferred relationship Some 1
Anomaly of chromosome pair 5 Is a Anomaly of chromosome pair true Inferred relationship Some
Anomaly of chromosome pair 5 Associated morphology anomalie congénitale false Inferred relationship Some 1
Anomaly of chromosome pair 5 Associated morphology anomalie congénitale false Inferred relationship Some
Anomaly of chromosome pair 5 Finding site Chromosome pair 5 false Inferred relationship Some 1
Anomaly of chromosome pair 5 Occurrence Congenital true Inferred relationship Some 1
Anomaly of chromosome pair 5 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Anomaly of chromosome pair 5 Finding site Chromosome pair 5 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
5p partial monosomy syndrome Is a False Anomaly of chromosome pair 5 Inferred relationship Some
5p partial trisomy Is a False Anomaly of chromosome pair 5 Inferred relationship Some
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a False Anomaly of chromosome pair 5 Inferred relationship Some
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Is a False Anomaly of chromosome pair 5 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 False Anomaly of chromosome pair 5 Inferred relationship Some
Deletion of part of chromosome 5 (disorder) Is a True Anomaly of chromosome pair 5 Inferred relationship Some
Partial trisomy of chromosome 5 Is a True Anomaly of chromosome pair 5 Inferred relationship Some
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. Is a True Anomaly of chromosome pair 5 Inferred relationship Some
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). Is a True Anomaly of chromosome pair 5 Inferred relationship Some
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). Is a True Anomaly of chromosome pair 5 Inferred relationship Some
Paternal uniparental disomy of chromosome 5 (disorder) Is a True Anomaly of chromosome pair 5 Inferred relationship Some
Tetrasomy 5p mosaicism Is a True Anomaly of chromosome pair 5 Inferred relationship Some

This concept is not in any reference sets

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