254275003: Balanced rearrangement and structural marker (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Chromosomal disorder (disorder)\Balanced rearrangement and structural marker (disorder)

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

378509019 Balanced rearrangement and structural marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645145010 Balanced rearrangement and structural marker (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

378509019 Balanced rearrangement and structural marker en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

378509019 Balanced rearrangement and structural marker en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645145010 Balanced rearrangement and structural marker (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

645145010 Balanced rearrangement and structural marker (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5083381000241115 réarrangement équilibré et marqueur structurel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5083381000241115 réarrangement équilibré et marqueur structurel 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
Balanced rearrangement and structural marker (disorder)	Is a	Congenital chromosomal disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Balanced rearrangement and structural marker (disorder)	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Balanced rearrangement and structural marker (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder)	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Balanced rearrangement and structural marker (disorder)	Is a	Chromosomal disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder)	Finding site	Chromosome structure (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chromosome inversion in normal individual	Is a	True	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced autosomal rearrangement in abnormal individual	Is a	True	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced sex/autosomal rearrangement in abnormal individual	Is a	True	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Individual with marker heterochromatin (disorder)	Is a	True	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Individual with autosomal fragile site (disorder)	Is a	True	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced translocation and insertion in normal individual	Is a	True	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced autosomal translocation (disorder)	Is a	True	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Other balanced rearrangements and structural markers	Is a	False	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Balanced rearrangement and structural marker, unspecified	Is a	False	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Balanced rearrangements and structural markers NEC	Is a	False	Balanced rearrangement and structural marker (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets