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715438008: Distal partial deletion of long arm of chromosome 11 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5400895014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400896010 A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterised by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302628012 Distal partial deletion of long arm of chromosome 11 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302629016 Distal partial deletion of long arm of chromosome 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302630014 Jacobsen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302631013 Distal deletion 11q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302632018 Distal monosomy 11q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5475301000241111 délétion télomérique 11q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421371001000118 Jacobsen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 11q partial monosomy syndrome false 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. Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 2
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. Occurrence Congenital true Inferred relationship Some 2
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. Finding site Chromosome pair 11 (cell structure) true Inferred relationship Some 2
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. Occurrence Congenital true Inferred relationship Some 3
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. Finding site Chromosome pair 11 (cell structure) true Inferred relationship Some 3
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. Associated morphology Deletion of long arm true Inferred relationship Some 2
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. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
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 Deletion of part of chromosome 11 (disorder) true 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. Finding site Long arm of chromosome false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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