GeneticGender
type: CodeSystem
node role: treeRoot
id:
  v: GeneticGender
text:
  status:
    v: generated
  div:
    v: Generated Narrative: CodeSystem GeneticGender Properties This code system defines the following properties for its concepts Name Code URI Type Description Value Set icd icd http://fhir.de/CodeSystem/dimdi/icd-10-gm code ICD http://fhir.de/ValueSet/dimdi/icd-10-gm Concepts This case-insensitive code system http://gender.oemig.de/fhir/CodeSystem/GeneticGender defines the following codes in a Is-A hierarchy: Code Display Definition icd 46_XX 46,XX Caryotype (female) Q99.0 46_XY 46,XY Caryotype (male) Q99.0 45_X 45,X Turner-Syndrome with female phenotype Q96 47_XXY 47,XXY Klinefelter-Syndrome with male phenotype Q98.0 48_XXXY 48,XXXY Klinefelter-Syndrome with male phenotype (rare) 49_XXXYY 49,XXXYY Klinefelter-Syndrome 49_XXXXY 49,XXXXY Klinefelter-Syndrome with male phenotype (rare) 47_XXX 47,XXX Triplo-X-Syndrome Q97.0 mos45_X46_XX mos45,X/46,XX Mosaic Q96.3 mos45_X46_XY mos45,X/46,XY Mosaic Q96.4 chi46_XX46_XY chi46,XX/46,XY Chimersm Q99.0 47_22 47,22 Cat-Eye Syndrome (Trisomy 22) 47_21 47,21 Down-Syndrome (Trisomy 21) Q90 47_18 47,18 Edwards-Syndrome (Trisomy 18) Q91.0, Q91.1, Q91.2, Q91.3 47_16 47,16 Trisomy 16 47_13 47,13 Pätau-Syndrome (Triosomy 13) Q91.4, Q91.5, Q91.6 47_9 47,9 Trisomy 9 Q92 47_8 47,8 Warkany Syndrome 2 (Trisomy 8) Q92 48_XXXX 48,XXXX Tetrasomy X 49_XXXXX 49,XXXXX Pentasomy X 47_XYY 47,XYY XYY-Syndrome 48_XXYY 48,XXYY Y-Polysomy 49_XYYYY 49,XYYYY Y-Polysomy
url:
  v: http://gender.oemig.de/fhir/CodeSystem/GeneticGender
  l: GeneticGender
version:
  v: 0.1.0
name:
  v: GeneticGenderCS
title:
  v: Genetic Gender
status:
  v: active
experimental:
  v: false
date:
  v: 2024-04-16
publisher:
  v: FO
contact:
  name:
    v: FO
  telecom:
    system:
      v: url
    value:
      v: http://www.oemig.de
description:
  v: genetic gender
copyright:
  v: FO
case sensitive:
  v: false
value set:
  v: http://gender.oemig.de/fhir/ValueSet/GeneticGender
  l: GeneticGender
hierarchy meaning:
  v: is-a
compositional:
  v: false
version needed:
  v: false
content:
  v: complete
count:
  v: 23
property:
  extension:
    url:
      v: http://hl7.org/fhir/StructureDefinition/codesystem-property-valueset
      l: codesystem-property-valueset
    value: Canonical
      v: http://fhir.de/ValueSet/dimdi/icd-10-gm
      l: icd-10-gm
  code:
    v: icd
  uri:
    v: http://fhir.de/CodeSystem/dimdi/icd-10-gm
    l: icd-10-gm
  description:
    v: ICD
  type:
    v: code
concept:
  code:
    v: 46_XX
  display:
    v: 46,XX
  definition:
    v: Caryotype (female)
  property:
    code:
      v: icd
    value: Code
      v: Q99.0
concept:
  code:
    v: 46_XY
  display:
    v: 46,XY
  definition:
    v: Caryotype (male)
  property:
    code:
      v: icd
    value: Code
      v: Q99.0
concept:
  code:
    v: 45_X
  display:
    v: 45,X
  definition:
    v: Turner-Syndrome with female phenotype
  property:
    code:
      v: icd
    value: Code
      v: Q96
concept:
  code:
    v: 47_XXY
  display:
    v: 47,XXY
  definition:
    v: Klinefelter-Syndrome with male phenotype
  property:
    code:
      v: icd
    value: Code
      v: Q98.0
concept:
  code:
    v: 48_XXXY
  display:
    v: 48,XXXY
  definition:
    v: Klinefelter-Syndrome with male phenotype (rare)
concept:
  code:
    v: 49_XXXYY
  display:
    v: 49,XXXYY
  definition:
    v: Klinefelter-Syndrome
concept:
  code:
    v: 49_XXXXY
  display:
    v: 49,XXXXY
  definition:
    v: Klinefelter-Syndrome with male phenotype (rare)
concept:
  code:
    v: 47_XXX
  display:
    v: 47,XXX
  definition:
    v: Triplo-X-Syndrome
  property:
    code:
      v: icd
    value: Code
      v: Q97.0
concept:
  code:
    v: mos45_X46_XX
  display:
    v: mos45,X/46,XX
  definition:
    v: Mosaic
  property:
    code:
      v: icd
    value: Code
      v: Q96.3
concept:
  code:
    v: mos45_X46_XY
  display:
    v: mos45,X/46,XY
  definition:
    v: Mosaic
  property:
    code:
      v: icd
    value: Code
      v: Q96.4
concept:
  code:
    v: chi46_XX46_XY
  display:
    v: chi46,XX/46,XY
  definition:
    v: Chimersm
  property:
    code:
      v: icd
    value: Code
      v: Q99.0
concept:
  code:
    v: 47_22
  display:
    v: 47,22
  definition:
    v: Cat-Eye Syndrome (Trisomy 22)
concept:
  code:
    v: 47_21
  display:
    v: 47,21
  definition:
    v: Down-Syndrome (Trisomy 21)

code:
  v: icd
value: Code
  v: Q90

code:
  v: 47_18
display:
  v: 47,18
definition:
  v: Edwards-Syndrome (Trisomy 18)
property:
  code:
    v: icd
  value: Code
    v: Q91.0
property:
  code:
    v: icd
  value: Code
    v: Q91.1
property:
  code:
    v: icd
  value: Code
    v: Q91.2
property:
  code:
    v: icd
  value: Code
    v: Q91.3

code:
  v: 47_16
display:
  v: 47,16
definition:
  v: Trisomy 16

code:
  v: 47_13
display:
  v: 47,13
definition:
  v: Pätau-Syndrome (Triosomy 13)
property:
  code:
    v: icd
  value: Code
    v: Q91.4
property:
  code:
    v: icd
  value: Code
    v: Q91.5
property:
  code:
    v: icd
  value: Code
    v: Q91.6

code:
  v: 47_9
display:
  v: 47,9
definition:
  v: Trisomy 9
property:
  code:
    v: icd
  value: Code
    v: Q92

code:
  v: 47_8
display:
  v: 47,8
definition:
  v: Warkany Syndrome 2 (Trisomy 8)
property:
  code:
    v: icd
  value: Code
    v: Q92

code:
  v: 48_XXXX
display:
  v: 48,XXXX
definition:
  v: Tetrasomy X

code:
  v: 49_XXXXX
display:
  v: 49,XXXXX
definition:
  v: Pentasomy X

code:
  v: 47_XYY
display:
  v: 47,XYY
definition:
  v: XYY-Syndrome

code:
  v: 48_XXYY
display:
  v: 48,XXYY
definition:
  v: Y-Polysomy

code:
  v: 49_XYYYY
display:
  v: 49,XYYYY
definition:
  v: Y-Polysomy