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726339008: Partial trisomy of short arm of chromosome 1 (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
3498264013 Partial trisomy of short arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498265014 Duplication of short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498266010 Partial trisomy of short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy of short arm of chromosome 1 (disorder) Is a Partial trisomy of chromosome 1 true Inferred relationship Some
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) Occurrence Congenital true Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) Finding site Short arm of chromosome true Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 3
Partial trisomy of short arm of chromosome 1 (disorder) Occurrence Congenital true Inferred relationship Some 3
Partial trisomy of short arm of chromosome 1 (disorder) Finding site Chromosome pair 1 true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. Is a True Partial trisomy of short arm of chromosome 1 (disorder) Inferred relationship Some
Medial duplication of short arm of chromosome 1 Is a True Partial trisomy of short arm of chromosome 1 (disorder) Inferred relationship Some
Proximal duplication of short arm of chromosome 1 (disorder) Is a True Partial trisomy of short arm of chromosome 1 (disorder) Inferred relationship Some
Distal trisomy 1p Is a True Partial trisomy of short arm of chromosome 1 (disorder) Inferred relationship Some

This concept is not in any reference sets

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