PanCareSurPass Project HL7 FHIR Implementation Guide
1.0.0 - release 150

PanCareSurPass Project HL7 FHIR Implementation Guide, published by PanCareSurPass Project. This guide is not an authorized publication; it is the continuous build for version 1.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/pcsp/ and changes regularly. See the Directory of published versions

## ValueSet: Hereditary Predispositions (ICD10)

Official URL: http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-icd10-predisposition-eu-pcsp | Version: 1.0.0
Active as of 2025-10-16 | Computable Name: ICD10HereditaryPredisposition

Hereditary Predispositions (ICD10)

References

- Observation: Hereditary Predisposition

### Logical Definition (CLD)

This value set includes codes based on the following rules:

- Include these codes as defined in `http://terminology.hl7.org/CodeSystem/data-absent-reason` version 📦1.0.0

  Code | Display | Definition
  not-applicable | Not Applicable | There is no proper value for this element (e.g. last menstrual period for a male).

- Include these codes as defined in `http://hl7.org/fhir/sid/icd-10` version Not Stated (use latest from terminology server)

  Code | Display
  D61.0 | Constitutional aplastic anemia
  D82.0 | Wiskott-Aldrich syndrome
  D82.3 | Immunodeficiency following hereditary defective response to Epstein-Barr virus
  E34.8 | Other specified endocrine disorders
  G11.3 | Cerebellar ataxia with defective DNA repair
  K86.1 | Other chronic pancreatitis
  L72.8 | Other follicular cysts of the skin and subcutaneous tissue
  Q78.6 | Multiple congenital exostoses
  Q82.1 | Xeroderma pigmentosum
  Q82.2 | Congenital cutaneous mastocytosis
  Q82.8 | Other specified congenital malformations of skin
  Q85.0 | Neurofibromatosis (nonmalignant)
  Q85.1 | Tuberous sclerosis
  Q85.8 | Other phakomatoses, not elsewhere classified
  Q87.3 | Congenital malformation syndromes involving early overgrowth
  Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified

### Expansion

Expansion from tx.fhir.org based on:

- codesystem ICD-10 version 2019-covid-expanded
- codesystem DataAbsentReason v1.0.0 (CodeSystem)

This value set contains 17 concepts

System | Code | Display (en) | JSON | XML
`http://terminology.hl7.org/CodeSystem/data-absent-reason` | not-applicable | Not Applicable |  |
`http://hl7.org/fhir/sid/icd-10` | D61.0 | Constitutional aplastic anaemia |  |
`http://hl7.org/fhir/sid/icd-10` | D82.0 | Wiskott-Aldrich syndrome |  |
`http://hl7.org/fhir/sid/icd-10` | D82.3 | Immunodeficiency following hereditary defective response to Epstein-Barr virus |  |
`http://hl7.org/fhir/sid/icd-10` | E34.8 | Other specified endocrine disorders |  |
`http://hl7.org/fhir/sid/icd-10` | G11.3 | Cerebellar ataxia with defective DNA repair |  |
`http://hl7.org/fhir/sid/icd-10` | K86.1 | Other chronic pancreatitis |  |
`http://hl7.org/fhir/sid/icd-10` | L72.8 | Other follicular cysts of skin and subcutaneous tissue |  |
`http://hl7.org/fhir/sid/icd-10` | Q78.6 | Multiple congenital exostoses |  |
`http://hl7.org/fhir/sid/icd-10` | Q82.1 | Xeroderma pigmentosum |  |
`http://hl7.org/fhir/sid/icd-10` | Q82.2 | Mastocytosis |  |
`http://hl7.org/fhir/sid/icd-10` | Q82.8 | Other specified congenital malformations of skin |  |
`http://hl7.org/fhir/sid/icd-10` | Q85.0 | Neurofibromatosis (nonmalignant) |  |
`http://hl7.org/fhir/sid/icd-10` | Q85.1 | Tuberous sclerosis |  |
`http://hl7.org/fhir/sid/icd-10` | Q85.8 | Other phakomatoses, not elsewhere classified |  |
`http://hl7.org/fhir/sid/icd-10` | Q87.3 | Congenital malformation syndromes involving early overgrowth |  |
`http://hl7.org/fhir/sid/icd-10` | Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |  |

Explanation of the columns that may appear on this page:

Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System | The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code | The code (used as the code in the resource instance)
Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition | An explanation of the meaning of the concept
Comments | Additional notes about how to use the code