254284003: Sex chromosome abnormality - male phenotype (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\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

5083521000241114 anomalie des chromosomes sexuels - phénotype masculin 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
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	anomalie congénitale	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	anomalie congénitale	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
A male with two or more X chromosomes.	Is a	False	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
A sex chromosome aneuploidy where males receive an additional Y chromosome, and with clinical characteristics of tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.	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
A male with two or more X chromosomes.	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males.	Is a	True	Sex chromosome abnormality - male phenotype	Inferred relationship	Some

This concept is not in any reference sets