254284003: Sex chromosome abnormality - male phenotype (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - male phenotype

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - male phenotype

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

378518017 Sex chromosome abnormality - male phenotype en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645155014 Sex chromosome abnormality - male phenotype (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2480201000052117 könskromosomavvikelse, manlig fenotyp sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sex chromosome abnormality - male phenotype	Is a	Anomaly of sex chromosome	true	Inferred relationship	Some
Sex chromosome abnormality - male phenotype	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Sex chromosome abnormality - male phenotype	Occurrence	Congenital	false	Inferred relationship	Some
Sex chromosome abnormality - male phenotype	Finding site	Sex chromosome	false	Inferred relationship	Some	1
Sex chromosome abnormality - male phenotype	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Sex chromosome abnormality - male phenotype	Finding site	Sex chromosome	false	Inferred relationship	Some	1
Sex chromosome abnormality - male phenotype	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Sex chromosome abnormality - male phenotype	Occurrence	Congenital	true	Inferred relationship	Some	1
Sex chromosome abnormality - male phenotype	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Sex chromosome abnormality - male phenotype	Finding site	Sex chromosome	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Male with structurally abnormal sex chromosome	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
Male with sex chromosome mosaicism	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
Klinefelter syndrome	Is a	False	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
Double Y syndrome	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
XX males	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
[X]Other specified sex chromosome abnormalities, male phenotype	Is a	False	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
[X]Sex chromosome abnormality, male phenotype, unspecified	Is a	False	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
Klinefelter's syndrome	Is a	False	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
Klinefelters syndrom	Is a	False	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
Klinefelter syndrome	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
48,XYYY syndrome (disorder)	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some

This concept is not in any reference sets