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

340451000077119 anomalie chromosomique autosomique 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
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	anomalie congénitale	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 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	Is a	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.	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

Description inactivation indicator reference set