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

4325000: 11q partial monosomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
8287015 11q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
780239014 11q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4402611000241111 monosomie partielle 11q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
11q partial monosomy syndrome Is a Anomaly of chromosome pair 11 false Inferred relationship Some
11q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
11q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
11q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
11q partial monosomy syndrome Finding site Chromosome pair 11 (cell structure) false Inferred relationship Some 2
11q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Some
11q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
11q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
11q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 1
11q partial monosomy syndrome Finding site Chromosome pair 11 (cell structure) false Inferred relationship Some 1
11q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some
11q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
11q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 1
11q partial monosomy syndrome Finding site Chromosome pair 11 (cell structure) true Inferred relationship Some 1
11q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
11q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 2
11q partial monosomy syndrome Finding site Chromosome pair 11 (cell structure) true Inferred relationship Some 2
11q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
11q partial monosomy syndrome Associated morphology Deletion of long arm true Inferred relationship Some 2
11q partial monosomy syndrome Is a Deletion of part of chromosome 11 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 False 11q partial monosomy syndrome Inferred relationship Some
Proximal deletion of long arm of chromosome 11 (disorder) Is a True 11q partial monosomy syndrome Inferred relationship Some
A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. Is a True 11q partial monosomy syndrome Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

Back to Start