FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

205627002: Monosomy and deletion from autosome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
315358017 Monosomy and deletion from autosome en Synonym Active Entire term case insensitive SNOMED CT core module
315359013 Monosomies and deletions from the autosomes en Synonym Active Entire term case insensitive SNOMED CT core module
591022012 Monosomy and deletion from autosome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


252 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Monosomy and deletion from autosome Is a Congenital disorder due to abnormality of chromosome number OR structure false Inferred relationship Existential restriction modifier
Monosomy and deletion from autosome Occurrence Congenital false Inferred relationship Existential restriction modifier
Monosomy and deletion from autosome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Monosomy and deletion from autosome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Monosomy and deletion from autosome Finding site Chromosome structure false Inferred relationship Existential restriction modifier 1
Monosomy and deletion from autosome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Monosomy and deletion from autosome Finding site Chromosome structure false Inferred relationship Existential restriction modifier 1
Monosomy and deletion from autosome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Monosomy and deletion from autosome Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier
Monosomy and deletion from autosome Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier 1
Monosomy and deletion from autosome Finding site Chromosome true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Deletion seen only at prometaphase Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Whole chromosome monosomy - meiotic nondisjunction Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Monosomy 21, mosaicism Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Deletion of part of autosome Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Whole chromosome monosomy - mitotic nondisjunction mosaicism Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Deletion with complex rearrangement Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
9p partial monosomy syndrome Is a False Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Complete monosomy 21 Is a False Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Antimongolism syndrome Is a False Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Autosomal deletion - mosaicism Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
[X]Other deletions from the autosomes Is a False Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Distal monosomy 1q syndrome Is a False Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Complete monosomy of autosome Is a True Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
Monosomy 22 syndrome Is a False Monosomy and deletion from autosome Inferred relationship Existential restriction modifier
[X]Other deletions from the autosomes Is a False Monosomy and deletion from autosome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start