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  • Wed, Apr 29, 2015time21:29

    Edition 65

    Now ready for download

    Mutations and alterations to the database in versions 65 and 64:
    29-04-2015 21:07: Update diagnosis: 5053 (id) 4972 (code) mitochondrial neurogastrointestinal encephalopathy syndrome
    29-04-2015 21:03: New gene list retrieved from http://bit.ly/hFPrkd
    29-04-2015 20:57: New diagnosis: 5648 (code) hereditary persistence of alpha feto-protein
    Code added to database, requested by user.
    29-04-2015 20:42: Update diagnosis: 5922 (id) 5646 (code) stickler syndrome type 4 col9a1 mutation
    29-04-2015 20:42: Update diagnosis: 5923 (id) 5647 (code) stickler syndrome type 5 col9a2 mutation
    29-04-2015 20:41: New diagnosis: 5647 (code) stickler syndrome type5 col9a2 mutation
    Code added to database, requested by user.
    29-04-2015 20:40: New diagnosis: 5646 (code) stickler syndrome type 4 col9a1 mutation
    Code added to database, requested by user.
    29-04-2015 20:38: Update diagnosis: 1128 (id) 1128 (code) epileptic encephalopathy early infantile
    Existing code for west syndrome updated. West syndrome is now a synonym. Added a new disease name and additional synonyms.
    15-04-2015 22:49: Update diagnosis: 5921 (id) 5645 (code) mg dependent phosphatidic acid phosphohydrolase deficiency
    15-04-2015 22:48: New diagnosis: 5645 (code) mg dependent phosphatidic acid phosphohydrolase deficiency
    Added to database, metabolic project
    15-04-2015 22:45: New diagnosis: 5644 (code) monocarboxylate transporter 1 deficiency
    Code added to database
    15-04-2015 22:39: Update diagnosis: 4324 (id) 4338 (code) stickler syndrome type 2 unspecified ad
    Updates OMIM code (should be 108300)
    15-04-2015 22:39: Update diagnosis: 4319 (id) 4333 (code) stickler syndrome type 3 col11a1 mutation ad
    Updated OMIM code (now available 184840)
    15-04-2015 22:38: Update diagnosis: 4324 (id) 4338 (code) stickler syndrome type 2 unspecified ad
    15-04-2015 22:37: Update diagnosis: 4319 (id) 4333 (code) stickler syndrome type 3 col11a1 mutation ad
    15-04-2015 22:35: Update diagnosis: 4319 (id) 4333 (code) stickler syndrome type 3 col11a1 mutation ad
    15-04-2015 22:33: Update diagnosis: 4325 (id) 4339 (code) stickler syndrome type 2 col11a2 mutation ad
    Removed " chromosome..."
    15-04-2015 22:32: Update diagnosis: 4323 (id) 4337 (code) marshall-stickler syndrome col11a1 mutation ad
    Removed "chromosome"
    15-04-2015 22:32: Update diagnosis: 4319 (id) 4333 (code) stickler syndrome type 3 col11a1 mutation
    Removed " chromosome..."
    15-04-2015 22:31: Update diagnosis: 4305 (id) 4319 (code) stickler syndrome type 1 col2a1 mutation ad
    Removed "chromosome..."
    25-03-2015 12:05: New gene list retrieved from http://bit.ly/hFPrkd
    25-03-2015 12:02: Update diagnosis: 5907 (id) 5631 (code) night blindness congenital stationary type ad3
    12-02-2015 11:58: New gene list retrieved from http://bit.ly/hFPrkd
    03-02-2015 14:20: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -

  • Fri, Jan 2, 2015time11:33

    Edition 63

    New edition ready for download

    Mutations and additions in this edition:

    02-01-2015 10:48: New gene list retrieved from http://bit.ly/hFPrkd
    02-01-2015 10:46: Update diagnosis: 5918 (id) 5642 (code) atrial standstill type 2
    02-01-2015 10:45: New diagnosis: 5643 (code) bietti crystalline dystrophy
    Code requested by user
    02-01-2015 10:43: New diagnosis: 5642 (code) atrial standstill type 2
    Requested by user
    02-01-2015 10:42: New diagnosis: 5641 (code) atrial standstill type 1
    Requested by user
    02-01-2015 10:38: New diagnosis: 5640 (code) coagulation factor deficiency unspecified
    Code requested by user
    29-12-2014 22:36: Update diagnosis: 5015 (id) 4935 (code) ohdo blepharophimosis syndrome
    Corrected spelling mistake: ohdo instead of odho
    11-11-2014 19:59: New diagnosis: 5639 (code) baraitser winter syndrome
    Code added to database, requested by user
    11-11-2014 19:55: New diagnosis: 5638 (code) choanal atresia deafness cardiac defects dysmorphism syndrome
    Code added to database, requested by user
    11-11-2014 19:50: New diagnosis: 5637 (code) chronic mucocutaneous candidiasis
    Added to database, requested by user
    11-11-2014 14:55: Update diagnosis: 5628 (id) 5357 (code) glutamate dehydrogenase deficiency
    Updated OMIM code to match with DDRMD, better match
    14-10-2014 22:15: New gene list retrieved from http://bit.ly/hFPrkd
    07-10-2014 11:26: New gene list retrieved from http://bit.ly/hFPrkd
    01-07-2014 11:26: New gene list retrieved from http://bit.ly/hFPrkd
    26-06-2014 15:48: Update diagnosis: 74 (id) 0074 (code) vermis agenesis
    Added ICD-10
    06-06-2014 14:04: Update diagnosis: 5912 (id) 5636 (code) congenital disorder of glycosylation type 1h
    06-06-2014 14:04: New diagnosis: 5636 (code) congenital disorder of glycosylation type 1h
    Added to CINEAS, metabolic project

    Downloads: -

  • Fri, Jan 2, 2015time11:32

    Happy New Year

    A very happy 2015 to all CINEAS users!

    Downloads: -

  • Wed, Jun 4, 2014time11:09

    Edition 62

    Now ready for download

    Edition 62, with a set of extra codes for congenital night blindness:
    04-06-2014 11:04: New diagnosis: 5635 (code) oguchi disease 2
    Added several codes for night blindness, requested by user
    04-06-2014 11:03: New diagnosis: 5634 (code) oguchi disease 1
    Added several codes for night blindness, requested by user
    04-06-2014 11:01: New diagnosis: 5633 (code) night blindness congenital stationary type 2b
    Added several codes, requested by user
    04-06-2014 11:00: New diagnosis: 5632 (code) night blindness congenital stationary type 2a
    Added several codes for night blindness, requested by user
    04-06-2014 10:58: New diagnosis: 5631 (code) night blindness congenital stationary type ad3
    Added several codes for night blindness, requested by user
    04-06-2014 10:55: New diagnosis: 5630 (code) night blindness congenital stationary type ad2
    Several codes added for night blindness, requested by user
    04-06-2014 10:54: New diagnosis: 5629 (code) night blindness congenital stationary type ad1
    Added several codes for night blindness, requested by user
    04-06-2014 10:52: New diagnosis: 5628 (code) night blindness congenital stationary type 1e
    Requested by user, added several types of night blindness
    04-06-2014 10:48: New diagnosis: 5627 (code) night blindness congenital stationary type 1d
    Added several codes for night blindness requested by user

    04-06-2014 10:47: Update diagnosis: 5902 (id) 5626 (code) night blindness congenital stationary type 1c
    04-06-2014 10:47: Update diagnosis: 5902 (id) 5626 (code) night blindness congenital stationary type 1c
    04-06-2014 10:46: New diagnosis: 5626 (code) night blindness congenital stationary type 1c
    Added several codes for night blindness, requested by user

    04-06-2014 10:44: Update diagnosis: 5901 (id) 5625 (code) night blindness congenital stationary type 1b
    04-06-2014 10:44: Update diagnosis: 1797 (id) 1797 (code) night blindness congenital stationary unspecified
    Added several codes for night blindness
    04-06-2014 10:43: Update diagnosis: 2170 (id) 2170 (code) night blindness congenital stationary type 1a
    Added synonyms, added type 1a
    04-06-2014 10:41: New diagnosis: 5625 (code) night blindness congenital stationary type 1b
    Added several codes for night blindness, requested by user

    Downloads: -

  • Fri, May 23, 2014time22:47

    Edition 61 available

    Now ready for download

    23-05-2014 22:32: New diagnosis: 5624 (code) 3-methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome
    Code added to database, requested by user.
    23-05-2014 22:30: New diagnosis: 5623 (code) basal laminar drusen
    Code added to Database. Requested by user.
    23-05-2014 22:28: New diagnosis: 5622 (code) doyne honeycombe retinal dystrophy
    Code added to database, requested by user.
    23-05-2014 22:26: New diagnosis: 5621 (code) stargardt disease 4
    Added diagnosis, requested by user.
    23-05-2014 22:25: Update diagnosis: 2335 (id) 2335 (code) macular degeneration juvenile ar
    Added synonym stargardt disease 1. Also added new codes for type 3 and 4. Requested by user.
    23-05-2014 22:23: New diagnosis: 5620 (code) stargardt disease 3
    12-05-2014 21:41: Update diagnosis: 1097 (id) 1097 (code) agnathia otocephaly complex
    Updaten disease name into agnathia otocephaly complex. Made current disease name into synonym
    29-04-2014 9:57: New gene list retrieved from http://bit.ly/hFPrkd
    07-04-2014 10:17: New gene list retrieved from http://bit.ly/hFPrkd
    28-03-2014 13:45: New gene list retrieved from http://bit.ly/hFPrkd
    18-03-2014 11:21: New gene list retrieved from http://bit.ly/hFPrkd
    11-03-2014 14:22: New gene list retrieved from http://bit.ly/hFPrkd
    06-03-2014 9:37: New gene list retrieved from http://bit.ly/hFPrkd
    12-02-2014 21:22: New gene list retrieved from http://bit.ly/hFPrkd
    12-02-2014 21:21: New diagnosis: 5619 (code) umod associated familial juvenile hyperuricemic nephropathy
    Code requested by user
    06-02-2014 10:14: New gene list retrieved from http://bit.ly/hFPrkd
    06-01-2014 11:02: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -

  • Wed, Mar 12, 2014time11:13

    New list of metabolic diseases

    Most recent update of list of metabolic diseases

    Download here or visit www.ddrmd.nl for the most recent update of a comprehensive list of metabolic diseases (subset of CINEAS). Also available in .xml format.

    Downloads:
    ddrmd_dlist.pdf

  • Mon, Jan 6, 2014time11:01

    A happy 2014

    Best wishes

    Best wishes for the new year to all CINEAS users!

    Downloads: -

  • Mon, Jan 6, 2014time10:59

    Edition 60 Available

    Now ready for download

    06-01-2014 10:34: New diagnosis: 5618 (code) kleefstra syndrome
    Requested by user
    06-01-2014 10:16: New diagnosis: 5617 (code) congenital disorder of glycosylation type 1i
    02-01-2014 21:07: Update diagnosis: 5025 (id) 4945 (code) severe myoclonic epilepsy of infancy associated with scn1a mutation
    02-01-2014 21:07: Update diagnosis: 5024 (id) 4944 (code) severe myoclonic epilepsy of infancy unspecified
    02-01-2014 21:02: New diagnosis: 5616 (code) calcium channel dysfunction
    02-01-2014 21:01: Update diagnosis: 5891 (id) 5615 (code) potassium channel dysfunction
    02-01-2014 20:58: New diagnosis: 5615 (code) potassium channel dysfunction
    02-01-2014 20:51: Update diagnosis: 4772 (id) 4786 (code) voltage sensitive calcium channel dysfunction
    New terminology. Project metabolic codes.
    02-01-2014 17:13: New diagnosis: 5614 (code) udp galactose transporter deficiency
    02-01-2014 17:11: Update diagnosis: 3210 (id) 3210 (code) congenital disorder of glycosylation type x
    17-12-2013 12:51: New gene list retrieved from http://bit.ly/hFPrkd
    29-11-2013 16:20: New gene list retrieved from http://bit.ly/hFPrkd
    16-11-2013 21:34: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -

  • Fri, Nov 1, 2013time16:25

    Edition 59 Available

    Now ready for download

    01-11-2013 16:18: New gene list retrieved from http://bit.ly/hFPrkd
    18-10-2013 14:48: Update diagnosis: 5888 (id) 5612 (code) citrin deficiency
    Added OMIM
    16-10-2013 18:58: New gene list retrieved from http://bit.ly/hFPrkd
    09-10-2013 20:43: New gene list retrieved from http://bit.ly/hFPrkd
    02-10-2013 21:23: Update diagnosis: 1180 (id) 1180 (code) pantothenate kinase deficiency
    Created new disease name (pantothenate kinase deficiency), made hallervorden spatz disease into a synonym. Project metabolic diseases.
    02-10-2013 21:14: Update diagnosis: 5490 (id) 5242 (code) glial fibrillary acidic protein deficiency
    Made "Glial fibrillary acidic protein deficiency" the new disease name. Alexander disease is now a synonym. The other code for alexander disease (ar) is now suspended.
    02-10-2013 21:12: Update diagnosis: 2329 (id) 2329 (code) alexander disease ar
    Code suspended. An AR form was suspected but we know now that this does not exist. Please use the code for alexander disease.
    02-10-2013 20:55: New diagnosis: 5613 (code) gm3 synthase deficiency
    CINEAS code entered, requested by user.
    02-10-2013 20:52: Update diagnosis: 76 (id) 0076 (code) hexosaminidases a and b deficiency
    02-10-2013 20:52: Update diagnosis: 5646 (id) 5375 (code) hexosaminidase a deficiency
    Made "hexosaminidase a deficiency" from synonym into disease name.
    02-10-2013 20:50: Update diagnosis: 76 (id) 0076 (code) hexosaminidases a and b deficiency
    Made "hexosaminidases a and b deficiency" from synonym into disease name. Project metabolic diseases.
    02-10-2013 20:48: Update diagnosis: 4475 (id) 4489 (code) beta-galactosidase deficiency
    Made "beta-galactosidase deficiency" from synonym into disease name.
    25-09-2013 22:42: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -

  • Wed, Sep 18, 2013time19:24

    Edition 58 available

    Now ready to download

    13-09-2013 11:42: Update diagnosis: 5136 (id) 5028 (code) citrullinemia type 2 neonatal onset
    Codes 5026, 5027 and 5028 suspended. Added code 5612. Changed 1359 into type 1.
    13-09-2013 11:42: Update diagnosis: 5137 (id) 5027 (code) citrullinemia type 2 adult onset
    Codes 5026, 5027 and 5028 suspended. Added code 5612. Changed 1359 into type 1.
    13-09-2013 11:41: Update diagnosis: 5138 (id) 5026 (code) citrullinemia type 2 unspecified
    Codes 5026, 5027 and 5028 suspended. Added code 5612. Changed 1359 into type 1.
    13-09-2013 11:41: Update diagnosis: 5888 (id) 5612 (code) citrin deficiency
    13-09-2013 11:39: New diagnosis: 5612 (code) citrin deficiency
    Codes 5026, 5027 and 5028 suspended. Added this code. Changed 1359 into type 1.
    13-09-2013 11:35: Update diagnosis: 1359 (id) 1359 (code) argininosuccinate synthetase deficiency
    13-09-2013 11:34: Update diagnosis: 1359 (id) 1359 (code) argininosuccinate synthetase deficiency
    This is now type 1, added "type 1" to disease code and switched disease name and synonym
    11-09-2013 21:21: New diagnosis: 5611 (code) craniosynostosis type 3 caused by tcf12 mutation
    Code added to database, requeste by user.
    11-09-2013 21:17: New diagnosis: 5610 (code) mandibulofacial dysostosis with microcephaly
    Code added to database, requested by user
    11-09-2013 21:13: Update diagnosis: 2311 (id) 2311 (code) lymphoproliferative disease xl
    sep 2013: added synonym lymphoproliferative disease xl1 and also added to CINEAS a disease code for type xl2
    11-09-2013 21:12: Update diagnosis: 2311 (id) 2311 (code) lymphoproliferative disease xl
    11-09-2013 21:11: New diagnosis: 5609 (code) lymphoproliferative disease xl2
    04-09-2013 20:55: New gene list retrieved from http://bit.ly/hFPrkd
    04-09-2013 20:41: Update diagnosis: 4686 (id) 4700 (code) lymphoproliferative disease unspecified
    04-09-2013 20:41: Update diagnosis: 2311 (id) 2311 (code) lymphoproliferative disease xl
    24-08-2013 22:19: Update diagnosis: 5884 (id) 5608 (code) tylosis with esophageal cancer
    24-08-2013 22:18: New diagnosis: 5608 (code) tylosis with esophageal cancer
    17-07-2013 20:17: New diagnosis: 5607 (code) platelet disorder familial with associated myeloid malignancy
    18-06-2013 21:17: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -