36369001: 1p partial monosomy (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1p partial monosomy

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1p partial monosomy

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4555211016 1p partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555212011 1p partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555213018 Partial deletion of the short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1991671000005112 partiel monosomi 1p-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
1p partial monosomy	Is a	Anomaly of chromosome pair 1	false	Inferred relationship	Some
1p partial monosomy	Is a	Deletion of part of autosome	false	Inferred relationship	Some
1p partial monosomy	Occurrence	Congenital	false	Inferred relationship	Some
1p partial monosomy	Finding site	Sex chromosome	false	Inferred relationship	Some
1p partial monosomy	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
1p partial monosomy	Associated morphology	Deletion of short arm	false	Inferred relationship	Some
1p partial monosomy	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
1p partial monosomy	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
1p partial monosomy	Associated morphology	kongenit anomali	false	Inferred relationship	Some
1p partial monosomy	Occurrence	Congenital	true	Inferred relationship	Some	1
1p partial monosomy	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1
1p partial monosomy	Occurrence	Congenital	true	Inferred relationship	Some	2
1p partial monosomy	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
1p partial monosomy	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
1p partial monosomy	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
1p partial monosomy	Is a	Deletion of part of chromosome 1 (disorder)	true	Inferred relationship	Some
1p partial monosomy	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
1p partial monosomy	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.	Is a	True	1p partial monosomy	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Is a	True	1p partial monosomy	Inferred relationship	Some
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.	Is a	True	1p partial monosomy	Inferred relationship	Some
Distal deletion of short arm of chromosome 1 (disorder)	Is a	True	1p partial monosomy	Inferred relationship	Some
Medial deletion of short arm of chromosome 1	Is a	True	1p partial monosomy	Inferred relationship	Some
Proximal deletion of short arm of chromosome 1	Is a	True	1p partial monosomy	Inferred relationship	Some
A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.	Is a	True	1p partial monosomy	Inferred relationship	Some

This concept is not in any reference sets