1003364006: Distal deletion of chromosome 13 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 13 (disorder)\Distal deletion of chromosome 13 (disorder)

\Anomaly of chromosome pair 13\Deletion of part of chromosome 13 (disorder)\Distal deletion of chromosome 13 (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 13 (disorder)\Distal deletion of chromosome 13 (disorder)

\Anomaly of chromosome pair 13\Deletion of part of chromosome 13 (disorder)\Distal deletion of chromosome 13 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4168085015 Distal deletion of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168086019 Distal deletion of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6076791000241116 délétion distale du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal deletion of chromosome 13 (disorder)	Is a	Deletion of part of chromosome 13 (disorder)	true	Inferred relationship	Some
Distal deletion of chromosome 13 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Distal deletion of chromosome 13 (disorder)	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
Distal deletion of chromosome 13 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
13q partial monosomy syndrome	Is a	True	Distal deletion of chromosome 13 (disorder)	Inferred relationship	Some
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.	Is a	True	Distal deletion of chromosome 13 (disorder)	Inferred relationship	Some

This concept is not in any reference sets