737544004: Partial 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)\Partial 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

3528206012 Partial deletion (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3528207015 Partial deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3528206012 Partial deletion (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3528207015 Partial 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
Partial deletion (morphologic abnormality)	Is a	Deletion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deletion 1p36 (morphologic abnormality)	Is a	True	Partial deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion 22q11.2 (morphologic abnormality)	Is a	True	Partial deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion 5p (morphologic abnormality)	Is a	True	Partial deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	Associated morphology	True	Partial deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	Associated morphology	True	Partial deletion (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)	4

This concept is not in any reference sets