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| Request Type | Details | CRS Request ID & Status | ||||
|---|---|---|---|---|---|---|
| Add Child |
| CRS 444115 Ready for Release | ||||
| Add Child |
| CRS 718445 Pending Clarification: "28861008|Crouzon syndrome (disorder)| is currently a descendant of 57219006|Craniosynostosis syndrome (disorder)| and this aligns with Orphanet and the ICD-11 draft. Proposal: inactivate the description Acrocephalosyndactyly, type II as there does not appear to be evidence that this is a current synonym for the disease." | ||||
| Rename / Add Synonym |
| CRS 718446 Merged with below | ||||
| Add Child |
| CRS 718447 The concept 52616002|Freeman-Sheldon syndrome (disorder)| has been remodelled to become a child of 24269006|Distal arthrogryposis syndrome (disorder)|. A new synonym has been added Distal arthrogryposis type 2A and a text definition has been added to the concept. | ||||
| Add Concept | FSN: Hypoparathyroidism-deafness-renal disease syndrome Description: Barakat syndrome OMIM 146255: "Hypoparathyroidism, sensorineural deafness, and renal disease" | |||||
| Add Concept | Hunter-Mcalpine Craniosynostosis Syndrome |
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49024004 | 4p partial trisomy syndrome (disorder) |