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

768930008: Partial trisomy of short arm of chromosome 8 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3687525016 Partial trisomy of short arm of chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3687526015 Partial trisomy of short arm of chromosome 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3687527012 Partial duplication short arm chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5518621000241118 trisomie partielle du bras court du chromosome 8 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 trisomy of short arm of chromosome 8 Occurrence Congenital true Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 Is a Partial trisomy of chromosome 8 true Inferred relationship Some
Partial trisomy of short arm of chromosome 8 Occurrence Congenital true Inferred relationship Some 1
Partial trisomy of short arm of chromosome 8 Associated morphology Partial trisomy true Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 Associated morphology Partial trisomy true Inferred relationship Some 1
Partial trisomy of short arm of chromosome 8 Finding site Chromosome pair 8 true Inferred relationship Some 1
Partial trisomy of short arm of chromosome 8 Finding site Short arm of chromosome true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. Is a True Partial trisomy of short arm of chromosome 8 Inferred relationship Some
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). Is a True Partial trisomy of short arm of chromosome 8 Inferred relationship Some
Distal trisomy 8p (disorder) Is a True Partial trisomy of short arm of chromosome 8 Inferred relationship Some
Proximal duplication of short arm of chromosome 8 Is a True Partial trisomy of short arm of chromosome 8 Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

Back to Start