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Enum: KaryotypicSexEnum

Karyotypic sex of an individual based on chromosome composition

URI: valuesets:KaryotypicSexEnum

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

Annotations

property value
stewards https://phenopackets.org
publishers https://ga4gh.org

Schema Source

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

LinkML Source

name: KaryotypicSexEnum
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
  stewards:
    tag: stewards
    value: https://phenopackets.org
  publishers:
    tag: publishers
    value: https://ga4gh.org
description: Karyotypic sex of an individual based on chromosome composition
title: Karyotypic Sex
from_schema: https://w3id.org/linkml/valuesets
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
status: STANDARD
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