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726381002: Deletion of part of chromosome 11 (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
3448831016 Deletion of part of chromosome 11 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448832011 Deletion of part of chromosome 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5866051000241118 délétion d'une partie du chromosome 11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5866061000241115 délétion partielle du chromosome 11 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 11 (disorder) Is a Anomaly of chromosome pair 11 true Inferred relationship Some
Deletion of part of chromosome 11 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 11 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 11 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 11 (disorder) Finding site Chromosome pair 11 (cell structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
11q partial monosomy syndrome Is a True Deletion of part of chromosome 11 (disorder) Inferred relationship Some
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. Is a True Deletion of part of chromosome 11 (disorder) Inferred relationship Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Is a True Deletion of part of chromosome 11 (disorder) Inferred relationship Some
11p partial monosomy syndrome Is a True Deletion of part of chromosome 11 (disorder) Inferred relationship Some

This concept is not in any reference sets

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