Project 8Project proposed by Jorge Galvez
Objective
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Request Type | Details | CRS Request ID & Status | ||||
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| CRS 444115 Ready for Release | ||||
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| 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." Note that OMIM does Acrocephalosyndactyly type II as a synonym, but for Apert Syndrome (which is confusing). Also see Bissonnette B, Dalens BJ. Syndromes, rapid recognition and perioperative implications. McGraw-Hill Professional. (2006) ISBN:0071354557. | ||||
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| CRS 718446 Merged with below | ||||
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| 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" | CRS 719796 Proposed parent is
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Add Concept | Hunter-Mcalpine Craniosynostosis Syndrome | CRS 719797 Proposed parent is
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Craniosynostosis syndrome (disorder)|