897529004: Distal deletion of long arm of chromosome 7 (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 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7

\Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7

\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 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7

\Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7q partial monosomy\Distal deletion of long arm of chromosome 7

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4034249013 Distal deletion of long arm of chromosome 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034250013 Distal deletion of long arm of chromosome 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4042284014 Distal monosomy 7q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal deletion of long arm of chromosome 7	Is a	7q partial monosomy	true	Inferred relationship	Some
Distal deletion of long arm of chromosome 7	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 7	Finding site	Chromosome pair 7	true	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 7	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 7	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 7	Finding site	Chromosome pair 7	false	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 7	Occurrence	Congenital	false	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 7	Finding site	Long arm of chromosome	true	Inferred relationship	Some	3
Distal deletion of long arm of chromosome 7	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3
Distal deletion of long arm of chromosome 7	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	Is a	True	Distal deletion of long arm of chromosome 7	Inferred relationship	Some
Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	Is a	True	Distal deletion of long arm of chromosome 7	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set