403759001: Autosomal chromosomal disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771685010 Autosomal chromosomal disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1782769019 Autosomal chromosomal disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5699141000172114 transmission chromosomique autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
11798671000172110 syndrome autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4228411000172114 autosomale chromosomale aandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4228421000172116 autosomale chromosoomafwijking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
11798681000172113 autosomaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal chromosomal disorder (disorder)	Is a	Congenital chromosomal disease	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Autosomal chromosomal disorder (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Autosomal chromosomal disorder (disorder)	Is a	Chromosomal disorder (disorder)	true	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Finding site	Chromosome structure	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Finding site	Chromosome structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal duplication (disorder)	Is a	True	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Autosomal aneuploidy (disorder)	Is a	True	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Autosomal translocation	Is a	True	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Maternal uniparental disomy of chromosome 20 (disorder)	Is a	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Paternal uniparental disomy of chromosome 20 (disorder)	Is a	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Uniparental disomy (disorder)	Is a	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Tetrasomy 5p mosaicism	Is a	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Tetrasomy 15q (disorder)	Is a	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some

Reference Sets