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  • 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: -

  • Tue, Jun 18, 2013time21:16

    Edition 57 available

    Now ready to download

    2-06-2013 19:53: New diagnosis: 5606 (code) hyperkalemic periodic paralysis
    Code added to database, requested by user.
    12-06-2013 19:50: Update diagnosis: 5881 (id) 5605 (code) hypokalemic periodic paralysis type 2
    12-06-2013 19:48: New diagnosis: 5605 (code) hypokalemic periodic paralysis type 2
    Code added to database, requested by user.
    12-06-2013 19:43: New diagnosis: 5604 (code) megalencephaly polymicrogyria polydactyly hydrocephalus syndrome
    Code requested by user
    05-06-2013 19:02: Update diagnosis: 5879 (id) 5603 (code) abnormal non invasive prenatal test
    Code requested by user.
    05-06-2013 19:01: New diagnosis: 5603 (code) abnormal non invasive prenatal test
    15-05-2013 21:42: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -

  • Wed, May 15, 2013time20:50

    Edition 56 available

    Now ready to download

    Changes and additions in this edition:
    5-05-2013 20:41: New diagnosis: 5602 (code) warburg micro syndrome
    Code added to database, requested by user
    15-05-2013 20:37: New diagnosis: 5601 (code) cardiac arrhytmia unspecified
    Requested by user, code added to database
    15-05-2013 19:44: New diagnosis: 5600 (code) Aminoacylase 1 deficiency
    Code added to database, project metabolic diseases
    15-05-2013 19:40: New diagnosis: 5599 (code) ciliopathy unspecified
    Request by user, code added to database
    15-05-2013 19:28: New diagnosis: 5598 (code) sialic acid transporter deficiency
    Code added to database
    10-04-2013 21:47: New diagnosis: 5597 (code) asparagine-linked glycosylation 11 deficiency
    10-04-2013 21:41: New diagnosis: 5596 (code) retinal vasculopathy with cerebral leukodystrophy
    04-04-2013 18:26: Update diagnosis: 1 (id) 0001 (code) duchenne muscular dystrophy xl
    04-04-2013 18:26: Update diagnosis: 1 (id) 0001 (code) duchenne muscular dystrophy xl
    03-04-2013 21:08: Update diagnosis: 5871 (id) 5595 (code) arterial turtuosity syndrome
    03-04-2013 21:06: New diagnosis: 5595 (code) arterial turtuosity syndrome
    New CINEAS code entered, requested by user.
    03-04-2013 21:03: New diagnosis: 5594 (code) immunodeficiency with cleft lip palate cataract hypopigmentation and absent corpus callosum
    03-04-2013 20:12: Update diagnosis: 1366 (id) 1366 (code) multiple carboxylase deficiency
    Added synonym "multiple carboxylase deficiency"
    03-03-2013 22:09: New gene list retrieved from http://bit.ly/hFPrkd
    23-01-2013 18:46: New gene list retrieved from http://bit.ly/hFPrkd
    12-01-2013 23:00: New gene list retrieved from http://bit.ly/hFPrkd
    02-01-2013 20:05: New gene list retrieved from http://bit.ly/hFPrkd
    12-12-2012 20:45: New gene list retrieved from http://bit.ly/hFPrkd
    12-12-2012 20:44: Update diagnosis: 3710 (id) 3724 (code) smith-magenis syndrome
    Code updated, changed into current terminology
    06-12-2012 13:18: New gene list retrieved from http://bit.ly/hFPrkd
    01-12-2012 15:49: New gene list retrieved from http://bit.ly/hFPrkd
    01-12-2012 15:48: New diagnosis: 5593 (code) glycogen storage disease type 14
    New metabolic code entered.
    25-11-2012 14:23: New gene list retrieved from http://bit.ly/hFPrkd
    07-11-2012 20:49: New gene list retrieved from http://bit.ly/hFPrkd
    24-10-2012 21:24: Update diagnosis: 3237 (id) 3237 (code) NADH-ubiquinone reductase deficiency
    Made "NADH-ubiquinone reductase deficiency " into the disease name. "Mitochondrial complex 1 deficiency" is now a synonym.
    24-10-2012 21:22: Update diagnosis: 3262 (id) 3262 (code) succinate dehydrogenase deficiency
    Made "succinate dehydrogenase deficiency" the disease name. Currect disease name "mitochondrial complex 4 deficiency" is now a synonym.
    24-10-2012 21:21: Update diagnosis: 5641 (id) 5370 (code) cytochrome c oxidase deficiency
    Made current disease name "mitochondrial complex 4 deficieny into a synonym. Made "cytochrome c oxidase deficieny" new disease name. Updated OMIM code.
    24-10-2012 21:18: Update diagnosis: 5642 (id) 5371 (code) ATP synthase deficiency
    Changed disease name into ATP synthase deficiency and made "mitochondrial complex 5 deficieny" a synonym. Updated OMIM code.
    24-10-2012 20:02: New gene list retrieved from http://bit.ly/hFPrkd
    14-10-2012 17:27: New gene list retrieved from http://bit.ly/hFPrkd
    10-10-2012 19:39: Update diagnosis: 718 (id) 0718 (code) multiple sulfatase deficiency
    Removed "ar"". Project revision metabolic codes 2011. Deleted non-relevant synonyms.
    07-10-2012 22:06: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -

  • Sat, Jul 28, 2012time22:18

    Edition 55 available

    Now ready to download

    Changes in this edition (54 - 55):

    28-07-2012 22:13: New gene list retrieved from http://bit.ly/hFPrkd
    25-07-2012 21:02: Update diagnosis: 5868 (id) 5592 (code) dolichol-p mannosyltransferase 3 deficiency
    25-07-2012 21:00: New diagnosis: 5592 (code) dolichol-p transferase 3 deficiency
    Added metabolic code, DDRMD project.
    25-07-2012 20:58: New diagnosis: 5591 (code) mannosyltransferase 7-9 deficiency
    Added metabolic code from DDRMD.
    25-07-2012 20:56: New diagnosis: 5590 (code) mannosyltransferase 1 deficiency
    Added metabolic code from DDRMD project.
    25-07-2012 20:53: New diagnosis: 5589 (code) dolichol kinase deficiency
    Added metabolic code from DDRMD.
    25-07-2012 20:52: New diagnosis: 5588 (code) glcnac-1-p transferase deficiency
    Added metabolic code from DDRMD
    25-07-2012 20:29: Update diagnosis: 3286 (id) 3286 (code) melas syndrome mtdna
    25-07-2012 20:29: Update diagnosis: 5837 (id) 5561 (code) mitochondrial DNA mutation related syndrome
    25-07-2012 20:29: Update diagnosis: 3286 (id) 3286 (code) melas syndrome mtdna
    please use code 5561. code suspended.
    25-07-2012 20:28: Update diagnosis: 5837 (id) 5561 (code) mitochondrial DNA mutation related syndrome
    25-07-2012 20:28: Update diagnosis: 5837 (id) 5561 (code) mitochondrial DNA mutation related syndrome
    Added synonyms.
    25-07-2012 20:16: Update diagnosis: 5863 (id) 5587 (code) hereditary diffuse gastric cancer cdh1 associated
    25-07-2012 20:14: New diagnosis: 5587 (code) hereditary diffuse gastric cancer cdh1 associated
    New CINEAS code entered, requested by user. This code will be suspended when genes can be imported in patient registry systems.
    20-07-2012 16:42: New gene list retrieved from http://bit.ly/hFPrkd
    18-07-2012 22:00: New diagnosis: 5586 (code) possible mosaicism
    This code was added within the project simplifying diagnosis registry 2012 with CINEAS and can be used to register suspected mosacism for a patient/family.
    18-07-2012 21:58: New diagnosis: 5585 (code) proven mosaicism
    This code was added within the project simplifying diagnosis registry 2012 with CINEAS and can be used to register proven mosacism for a patient/family.
    02-07-2012 15:44: Update diagnosis: 1 (id) 0001 (code) duchenne muscular dystrophy xl
    02-07-2012 15:44: Update diagnosis: 1 (id) 0001 (code) duchenne muscular dystrophy xl
    02-07-2012 15:41: Update diagnosis: 1 (id) 0001 (code) duchenne muscular dystrophy xl
    02-07-2012 15:41: Update diagnosis: 1 (id) 0001 (code) duchenne muscular dystrophy xl
    29-06-2012 22:01: New gene list retrieved from http://bit.ly/hFPrkd
    22-06-2012 10:20: New gene list retrieved from http://bit.ly/hFPrkd
    13-06-2012 19:22: Update diagnosis: 5614 (id) 5343 (code) phosphoribosylpyrophosphate synthetase deficiency
    Added synonyms.
    13-06-2012 19:20: Update diagnosis: 2927 (id) 2927 (code) lysinuric protein intolerance
    Added synonym "cationic amino acid transporter deficiency".
    13-06-2012 19:19: Update diagnosis: 5633 (id) 5362 (code) homozygous hypobetalipoproteinemia
    Project metabolic codes. Code suspended. No more seperate codes for homzygotic cases.
    13-06-2012 19:16: New diagnosis: 5584 (code) methylmalonate semialdehyde dehydrogenase deficiency
    Project revision metabolic codes.
    13-06-2012 19:11: Update diagnosis: 2964 (id) 2964 (code) riboflavin transporter deficiency
    13-06-2012 19:08: Update diagnosis: 2964 (id) 2964 (code) riboflavin transporter deficiency
    13-06-2012 19:08: Update diagnosis: 2964 (id) 2964 (code) riboflavin transporter deficiency
    13-06-2012 19:07: Update diagnosis: 2964 (id) 2964 (code) riboflavin transporter deficiency
    Code updated. Changed disease name into riboflavin transporter deficiency. Made current disease name (bulbar palsy..) into a synonym. Project revision metabolic codes.
    13-06-2012 18:59: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -

  • Mon, May 7, 2012time15:01

    Ehlers-Danlos codes revised

    New codes for Ehlers-Danlos syndrome

    Fifteen new codes for ehlers-danlos syndrome have been entered, according to the new classification op De Paepe (2012). All former codes will be suspended. New codes are available for use in Edtion 54 of June 1st 2012.

    Downloads:
    eds.pdf

  • Wed, Apr 4, 2012time20:14

    Edition 52 and 53 available

    Now ready to download

    Edition 53 is almost the same as Edtion 52. Only one synonym that was longer that the 80 characters limit was changed.

    Edition 53 changes:
    Update diagnosis: 5820 (id) 5544 (code) microvillus inclusion disease

    Edition 52 changes:
    01-04-2012 14:09: New gene list retrieved from http://bit.ly/hFPrkd
    30-03-2012 12:47: New gene list retrieved from http://bit.ly/hFPrkd
    26-03-2012 14:04: Update diagnosis: 5656 (id) 5382 (code) hyperoxaluria unspecified
    Code suspended. Please use existing codes for hyperoxaluria type 1 or type 2
    26-03-2012 13:58: Update diagnosis: 5602 (id) 5331 (code) cobalamin c and d
    Code suspended.
    21-03-2012 21:43: New diagnosis: 5568 (code) hypermethioninemia due to adenosine kinase deficiency
    New Request by user
    19-03-2012 14:42: New gene list retrieved from http://bit.ly/hFPrkd
    24-02-2012 20:47: New gene list retrieved from http://bit.ly/hFPrkd
    22-02-2012 20:37: Update diagnosis: 5662 (id) 5388 (code) seapterin reductase deficiency
    22-02-2012 12:41: Update diagnosis: 5577 (id) 5306 (code) gtp-cyclohydrolase 1 deficiency
    17-02-2012 15:09: New gene list retrieved from http://bit.ly/hFPrkd
    17-02-2012 10:38: Update diagnosis: 3286 (id) 3286 (code) melas syndrome mtdna
    07-02-2012 10:43: New diagnosis: 5567 (code) macrocephaly-capillary malformation syndrome
    New CINEAS code entered, requested by user
    07-02-2012 10:40: New diagnosis: 5566 (code) van den ende gupta syndrome
    New CINEAS code entered, requested by user.
    03-02-2012 16:36: New gene list retrieved from http://bit.ly/hFPrkd
    02-02-2012 14:01: New diagnosis: 5565 (code) cancer familial
    CINEAS code entered
    01-02-2012 21:52: New diagnosis: 5564 (code) pleuropulmonary famial tumor and dysplasia syndrome
    New CINEAS code entered, user requested
    01-02-2012 21:49: New diagnosis: 5563 (code) cystic nephroma
    New CINEAS code entered, user requested
    01-02-2012 21:46: New diagnosis: 5562 (code) pleuropulmonary blastoma
    New CINEAS code entered, request of user
    20-01-2012 17:02: New gene list retrieved from http://bit.ly/hFPrkd
    16-01-2012 11:26: New gene list retrieved from http://bit.ly/hFPrkd
    12-01-2012 8:48: Update diagnosis: 259 (id) 0259 (code) cystic fibrosis ar
    added synonym
    11-01-2012 21:39: Update diagnosis: 4649 (id) 4663 (code) cystic angiomatosis of bone diffuse ad
    Added 2 synonyms.
    09-01-2012 14:20: New gene list retrieved from http://bit.ly/hFPrkd

    Downloads: -