This value set includes codes based on the following rules:

• Include these codes as defined in https://www.orpha.net

  Code	Display
  84	Fanconi anemia
  100	Ataxia telangiectasia
  109	Bannayan-Riley-Ruvalcaba syndrome
  116	Beckwith-Wiedemann syndrome
  122	Birt-Hogg-Dube´ syndrome
  125	Bloom syndrome
  144	Lynch Syndrome
  145	Hereditary breast and ovarian cancer syndrome
  201	Cowden Syndrome
  321	Multiple osteochondromas
  347	Frasier syndrome
  373	Simpson-Golabi-Behmel syndrome
  377	Gorlin syndrome
  500	LEOPARD syndrome
  523	Hereditary leiomyomatosis and renal cell cancer
  524	Li-Fraumeni Syndrome
  587	Muir Torre syndrome
  618	Familial Melanoma
  637	Neurofibromatosis type 2
  647	Nijmegen breakage syndrome
  648	Noonan syndrome
  652	Multiple endocrine neoplasia type 1
  653	Multiple endocrine neoplasia type 2
  654	Nephroblastoma
  660	Omphalocele
  676	Hereditary chronic pancreatitis
  733	Familial adenomatous polyposis
  744	Proteus syndrome
  805	Tuberous sclerosis complex
  811	Shwachman-Diamond syndrome
  821	Sotos syndrome
  870	Down syndrome
  881	Turner syndrome
  892	von Hippel-Lindau syndrome
  893	WAGR syndrome
  902	Werner syndrome
  906	Wiskott-Aldrich syndrome
  910	Xeroderma pigmentosum
  1331	Familial prostate cancer
  1340	Cardio-Facio-Cutaneous (CFC) syndrome
  1359	Carney Complex
  1572	Common variable immune deficiency
  1915	Fetal alcohol syndrome
  2128	Isolated Hemihypertrophy
  2346	Angioosteohypertrophic syndrome
  2442	X-linked lymphoproliferative syndrome
  2678	Neurofibromatosis type 6
  2869	Peutz-Jeghers syndrome
  2909	Rothmund Thomson syndrome
  2929	Juvenile polyposis syndrome
  3261	Autoimmune lymphoproliferative syndrome
  26106	Hereditary diffuse gastric cancer
  29072	Hereditary pheochromocytoma-paraganglioma
  44890	Gastrointestinal stromal tumor
  47044	Hereditary papillary renal cancer syndrome
  77828	Genetic obesity
  93460	Overgrowth syndrome
  97286	Carney-Stratakis Syndrome
  99817	Non-polyposis Turcot syndrome
  99818	Turcot Syndrome with polyposis
  101088	X-linked hyper-IgM syndrome
  141145	Hemifacial hyperplasia
  156207	Macroglossia
  220460	Attenuated familial adenomatous polyposis
  231040	Noonan syndrome with multiple lentigines
  231108	Familial rhabdoid tumor
  251347	Ataxia-telangiectasia-like disorder
  295049	Upper limb Hypertrophy
  295051	Lower limb hypertrophy
  319487	Familial follicular or papillary thyroid cancer
  331223	Hyper IgE Syndrome (HIES)
  357027	Hereditary retinoblastoma
  363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
  404560	Familial atypical multiple mole melanoma syndrome
  423776	Hereditary gastric cancer
  443909	Hereditary nonpolyposis colon cancer
  458830	Rare capillary malformation with associated anomalies

• Include these codes as defined in http://terminology.hl7.org/CodeSystem/v3-NullFlavor

  Code	Display	Definition
  OTH	Other	**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system). **Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \*any\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc. With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.

This value set contains 78 concepts