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726384005: Deletion of part of chromosome 13 (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
3448837017 Deletion of part of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448838010 Deletion of part of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5996481000241114 monosomie partielle du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996491000241111 délétion partielle du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 13 (disorder) Is a Anomaly of chromosome pair 13 true Inferred relationship Some
Deletion of part of chromosome 13 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 13 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 13 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 13 (disorder) Finding site Chromosome pair 13 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
13q partial monosomy syndrome Is a False Deletion of part 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 False Deletion of part of chromosome 13 (disorder) Inferred relationship Some
Distal deletion of chromosome 13 (disorder) Is a True Deletion of part of chromosome 13 (disorder) Inferred relationship Some
Medial deletion of chromosome 13 Is a True Deletion of part of chromosome 13 (disorder) Inferred relationship Some
Deletion of long arm of chromosome 13 Is a True Deletion of part of chromosome 13 (disorder) Inferred relationship Some
Proximal deletion of chromosome 13 (disorder) Is a True Deletion of part of chromosome 13 (disorder) Inferred relationship Some

This concept is not in any reference sets

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