254284003: afwijking van geslachtschromosoom bij mannelijk fenotype (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - male phenotype

\Chromosomal disorder (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

11618741000146111 afwijking van geslachtschromosoom bij mannelijk fenotype nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11618751000146114 geslachtschromosomale afwijking bij mannelijk fenotype nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11618761000146112 afwijking van geslachtschromosoom bij mannelijk fenotype (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands 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	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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
Klinefelter's syndrome - male with more than two X chromosomes	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