737543005: Deletion (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure\Cellular AND/OR subcellular abnormality\Chromosomal morphology (morphologic abnormality)\Karyotype morphology\Deletion (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3528204010 Deletion (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3528205011 Deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3528204010 Deletion (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3528205011 Deletion 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
Deletion (morphologic abnormality)	Is a	Karyotype morphology	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial deletion (morphologic abnormality)	Is a	True	Deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.	Associated morphology	True	Deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.	Associated morphology	True	Deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)	3

This concept is not in any reference sets