FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

6002006: 10p 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
10975019 10p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
798927012 10p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
10975019 10p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
798927012 10p partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
798927012 10p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4408451000241114 monosomie partielle 10p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4408451000241114 monosomie partielle 10p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
10p partial monosomy syndrome (disorder) Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Is a Anomaly of chromosome pair 10 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial monosomy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 2
10p partial monosomy syndrome (disorder) Is a Deletion of part of chromosome 10 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Is a True 10p partial monosomy syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True 10p partial monosomy syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Is a True 10p partial monosomy syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start