FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

12399004: Chromosome pair 5 (cell structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
21339016 Chromosome pair 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1185979011 Chromosome pair 5 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 5 Is a Chromosome true Inferred relationship Some
Chromosome pair 5 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Anomaly of chromosome pair 5 Finding site False Chromosome pair 5 Inferred relationship Some 1
5p partial monosomy syndrome Finding site False Chromosome pair 5 Inferred relationship Some 1
5p partial trisomy Finding site False Chromosome pair 5 Inferred relationship Some 1
5p partial monosomy syndrome Finding site False Chromosome pair 5 Inferred relationship Some 1
5p partial trisomy Finding site False Chromosome pair 5 Inferred relationship Some 1
Anomaly of chromosome pair 5 Finding site False Chromosome pair 5 Inferred relationship Some 1
5p partial trisomy Finding site True Chromosome pair 5 Inferred relationship Some 1
Anomaly of chromosome pair 5 Finding site True Chromosome pair 5 Inferred relationship Some 1
5p partial monosomy syndrome Finding site True Chromosome pair 5 Inferred relationship Some 1
5p partial monosomy syndrome Finding site False Chromosome pair 5 Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Finding site False Chromosome pair 5 Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Finding site False Chromosome pair 5 Inferred relationship Some 3
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. Finding site True Chromosome pair 5 Inferred relationship Some 1
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. Finding site False Chromosome pair 5 Inferred relationship Some 2
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. Finding site True Chromosome pair 5 Inferred relationship Some 3
Deletion of part of chromosome 5 (disorder) Finding site True Chromosome pair 5 Inferred relationship Some 1
Deletion of part of long arm of chromosome 5 (disorder) Finding site False Chromosome pair 5 Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) Finding site True Chromosome pair 5 Inferred relationship Some 3
Partial trisomy of chromosome 5 Finding site True Chromosome pair 5 Inferred relationship Some 1
Partial trisomy of long arm of chromosome 5 Finding site True Chromosome pair 5 Inferred relationship Some 2
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. Finding site True Chromosome pair 5 Inferred relationship Some 2
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. Finding site True Chromosome pair 5 Inferred relationship Some 1
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). Finding site True Chromosome pair 5 Inferred relationship Some 1
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). Finding site True Chromosome pair 5 Inferred relationship Some 1
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). Finding site True Chromosome pair 5 Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Finding site True Chromosome pair 5 Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 5 Inferred relationship Some 3
Paternal uniparental disomy of chromosome 5 (disorder) Finding site True Chromosome pair 5 Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Finding site True Chromosome pair 5 Inferred relationship Some 2
5q22.2 deletion syndrome Finding site True Chromosome pair 5 Inferred relationship Some 1
5q22.2 deletion syndrome Finding site False Chromosome pair 5 Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 (disorder) Finding site True Chromosome pair 5 Inferred relationship Some 1
Medial deletion of long arm of chromosome 5 (disorder) Finding site True Chromosome pair 5 Inferred relationship Some 1
Medial deletion of long arm of chromosome 5 (disorder) Finding site False Chromosome pair 5 Inferred relationship Some 2
Proximal duplication of long arm of chromosome 5 (disorder) Finding site True Chromosome pair 5 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 5 Finding site True Chromosome pair 5 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 5 Finding site False Chromosome pair 5 Inferred relationship Some 2
Tetrasomy 5p mosaicism Finding site True Chromosome pair 5 Inferred relationship Some 1
Tetrasomy 5p mosaicism Finding site True Chromosome pair 5 Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Finding site True Chromosome pair 5 Inferred relationship Some 1
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Finding site True Chromosome pair 5 Inferred relationship Some 1
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. Finding site True Chromosome pair 5 Inferred relationship Some 1

This concept is not in any reference sets

Back to Start