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