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205627002: Monosomy and deletion from autosome (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

252 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Monosomy and deletion from autosome Is a Congenital chromosomal disease false Inferred relationship Some
Monosomy and deletion from autosome Associated morphology Congenital anomaly false Inferred relationship Some 1
Monosomy and deletion from autosome Finding site Chromosome structure false Inferred relationship Some 1
Monosomy and deletion from autosome Associated morphology Congenital anomaly false Inferred relationship Some
Monosomy and deletion from autosome Finding site Chromosome structure false Inferred relationship Some 1
Monosomy and deletion from autosome Occurrence Congenital false Inferred relationship Some
Monosomy and deletion from autosome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Monosomy and deletion from autosome Occurrence Congenital true Inferred relationship Some 1
Monosomy and deletion from autosome Is a Anomaly of chromosome pair true Inferred relationship Some
Monosomy and deletion from autosome Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Monosomy and deletion from autosome Finding site Chromosome true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Monosomy 22 syndrome Is a False Monosomy and deletion from autosome Inferred relationship Some
Deletion seen only at prometaphase Is a True Monosomy and deletion from autosome Inferred relationship Some
Whole chromosome monosomy - meiotic nondisjunction Is a True Monosomy and deletion from autosome Inferred relationship Some
Monosomy 21, mosaicism Is a True Monosomy and deletion from autosome Inferred relationship Some
9p partial monosomy syndrome Is a False Monosomy and deletion from autosome Inferred relationship Some
Complete monosomy 21 Is a False Monosomy and deletion from autosome Inferred relationship Some
Antimongolism syndrome Is a False Monosomy and deletion from autosome Inferred relationship Some
Autosomal deletion - mosaicism Is a True Monosomy and deletion from autosome Inferred relationship Some
[X]Other deletions from the autosomes Is a False Monosomy and deletion from autosome Inferred relationship Some
Distal monosomy 1q syndrome Is a False Monosomy and deletion from autosome Inferred relationship Some
Complete monosomy of autosome Is a True Monosomy and deletion from autosome Inferred relationship Some
Deletion of part of autosome Is a True Monosomy and deletion from autosome Inferred relationship Some
Whole chromosome monosomy - mitotic nondisjunction mosaicism Is a True Monosomy and deletion from autosome Inferred relationship Some
Deletion with complex rearrangement Is a True Monosomy and deletion from autosome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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