Enum: KaryotypicSexEnum

Karyotypic sex of an individual based on chromosome composition

Permissible Values

Value	Meaning	Description
XX	NCIT:C45976	Female karyotype (46,XX)
XY	NCIT:C45977	Male karyotype (46,XY)
XO	NCIT:C176780	Turner syndrome karyotype (45,X)
XXY	NCIT:C176784	Klinefelter syndrome karyotype (47,XXY)
XXX	NCIT:C176785	Triple X syndrome karyotype (47,XXX)
XXXY	NCIT:C176786	XXXY syndrome karyotype (48,XXXY)
XXXX	NCIT:C176787	Tetrasomy X karyotype (48,XXXX)
XXYY	NCIT:C89801	XXYY syndrome karyotype (48,XXYY)
XYY	NCIT:C176782	Jacob's syndrome karyotype (47,XYY)
OTHER_KARYOTYPE	None	Other karyotypic sex not listed
UNKNOWN_KARYOTYPE	NCIT:C17998	Karyotype not determined or unknown

Slots

Name	Description
karyotypic_sex	Karyotypic sex of an individual based on chromosome composition

Identifier and Mapping Information

Schema Source

from schema: https://w3id.org/linkml/valuesets

LinkML Source

name: KaryotypicSexEnum
description: Karyotypic sex of an individual based on chromosome composition
from_schema: https://w3id.org/linkml/valuesets
rank: 1000
permissible_values:
  XX:
    text: XX
    description: Female karyotype (46,XX)
    meaning: NCIT:C45976
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 46
      typical_phenotypic_sex:
        tag: typical_phenotypic_sex
        value: female
    title: XX Genotype
  XY:
    text: XY
    description: Male karyotype (46,XY)
    meaning: NCIT:C45977
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 46
      typical_phenotypic_sex:
        tag: typical_phenotypic_sex
        value: male
    title: XY Genotype
  XO:
    text: XO
    description: Turner syndrome karyotype (45,X)
    meaning: NCIT:C176780
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 45
      condition:
        tag: condition
        value: Turner syndrome
    title: 45,XO Karyotype
  XXY:
    text: XXY
    description: Klinefelter syndrome karyotype (47,XXY)
    meaning: NCIT:C176784
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 47
      condition:
        tag: condition
        value: Klinefelter syndrome
    title: 47,XXY Karyotype
  XXX:
    text: XXX
    description: Triple X syndrome karyotype (47,XXX)
    meaning: NCIT:C176785
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 47
      condition:
        tag: condition
        value: Triple X syndrome
    title: 47,XXX Karyotype
  XXXY:
    text: XXXY
    description: XXXY syndrome karyotype (48,XXXY)
    meaning: NCIT:C176786
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 48
      condition:
        tag: condition
        value: XXXY syndrome
    title: 48,XXXY Karyotype
  XXXX:
    text: XXXX
    description: Tetrasomy X karyotype (48,XXXX)
    meaning: NCIT:C176787
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 48
      condition:
        tag: condition
        value: Tetrasomy X
    title: 48,XXXX Karyotype
  XXYY:
    text: XXYY
    description: XXYY syndrome karyotype (48,XXYY)
    meaning: NCIT:C89801
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 48
      condition:
        tag: condition
        value: XXYY syndrome
    title: XXYY Syndrome
  XYY:
    text: XYY
    description: Jacob's syndrome karyotype (47,XYY)
    meaning: NCIT:C176782
    annotations:
      chromosome_count:
        tag: chromosome_count
        value: 47
      condition:
        tag: condition
        value: Jacob's syndrome
    title: 47,XYY Karyotype
  OTHER_KARYOTYPE:
    text: OTHER_KARYOTYPE
    description: Other karyotypic sex not listed
    annotations:
      note:
        tag: note
        value: May include complex chromosomal arrangements
  UNKNOWN_KARYOTYPE:
    text: UNKNOWN_KARYOTYPE
    description: Karyotype not determined or unknown
    meaning: NCIT:C17998
    title: Unknown