205627002: Monosomy and deletion from autosome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome

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

315358017 Monosomy and deletion from autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

315359013 Monosomies and deletions from the autosomes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591022012 Monosomy and deletion from autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4885841000241111 monosomie et délétion de l'autosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	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	Associated morphology	anomalie congénitale	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	anomalie congénitale	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	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
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
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
9p partial monosomy syndrome	Is a	False	Monosomy and deletion from autosome	Inferred relationship	Some
Complete monosomy 21 (disorder)	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
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies.	Is a	False	Monosomy and deletion from autosome	Inferred relationship	Some
Complete monosomy of autosome (disorder)	Is a	True	Monosomy and deletion from autosome	Inferred relationship	Some
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.	Is a	False	Monosomy and deletion from autosome	Inferred relationship	Some

This concept is not in any reference sets