ICD-11-MMS
ICD-11-MMS ICD11分類(ICD-11-MMS) > CHAPTER20 発生異常(Developmental anomalies) > BlockL1-LD2 多発性の発生異常又は発生異常症候群(Multiple developmental anomalies or syndromes) > LD20 主な特徴として中枢神経系異常を伴う症候群(Syndromes with central nervous system anomalies as a major feature) > LD20.1 主な特徴として滑脳症を伴う症候群(Syndromes with lissencephaly as a major feature)
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LD20.1 主な特徴として滑脳症を伴う症候群(Syndromes with lissencephaly as a major feature)
分類ID 分類名 ICD11
1 10222420 主な特徴として滑脳症を伴う症候群(Syndromes with lissencephaly as a major feature) LD20.1
2 20069533 厚脳回(Pachygyria) LD20.1
3 20069534 無脳回(Agyria) LD20.1
4 20069535 古典的滑脳症(Classic lissencephaly) LD20.1
5 20069536 滑脳症1型(Lissencephaly type 1) LD20.1
6 20069537 ダブルコルチン遺伝子変異による滑脳症1型(Lissencephaly type 1 due to doublecortin gene mutation) LD20.1
7 20069538 皮質下帯状異所性灰白質(Subcortical band heterotopia) LD20.1
8 20069539 ミラー・ディカー症候群(Miller-Dieker syndrome) LD20.1
9 20069540 17p13.3欠失による滑脳症(Lissencephaly due to 17p13.3 deletion) LD20.1
10 20069541 17p13.3微細欠失症候群(17p13.3 microdeletion syndrome) LD20.1
11 20069542 17pテロメア欠失(Telomeric deletion 17p) LD20.1
12 20069543 17p13.3モノソミー(Monosomy 17p13.3) LD20.1
13 20069544 17p13.3欠失(17p13.3 deletion) LD20.1
14 20069545 LIS1遺伝子変異による滑脳症1型(Lissencephaly type 1 due to LIS1 gene mutation) LD20.1
15 20069546 既知の遺伝学的異常のない孤発性滑脳症1型(Isolated lissencephaly type 1 without known genetic defects) LD20.1
16 20069547 滑脳症2型(Lissencephaly type 2) LD20.1
17 20069548 滑脳症3型(Lissencephaly type 3) LD20.1
18 20069549 ノイ・ラゾーバ症候群(Neu-Laxova syndrome) LD20.1
19 20069550 滑脳症3型・家族性胎児無動シークエンス(Lissencephaly type 3 - familial fetal akinesia sequence) LD20.1
20 20069551 滑脳症3型・中手骨異形成(Lissencephaly type 3 - metacarpal bone dysplasia) LD20.1
21 20069552 小脳低形成を伴う滑脳症(Lissencephaly with cerebellar hypoplasia) LD20.1
22 20069553 小脳低形成を伴う滑脳症A型(Lissencephaly with cerebellar hypoplasia type A) LD20.1
23 20069554 小脳低形成を伴う滑脳症B型(Lissencephaly with cerebellar hypoplasia type B) LD20.1
24 20069555 小脳低形成を伴う滑脳症C型(Lissencephaly with cerebellar hypoplasia type C) LD20.1
25 20069556 小脳低形成を伴う滑脳症D型(Lissencephaly with cerebellar hypoplasia type D) LD20.1
26 20069557 小脳低形成を伴う滑脳症E型(Lissencephaly with cerebellar hypoplasia type E) LD20.1
27 20069558 小脳低形成を伴う滑脳症F型(Lissencephaly with cerebellar hypoplasia type F) LD20.1
28 20069559 小脳滑脳症(Microlissencephaly) LD20.1
29 20069560 小脳滑脳症A型(Microlissencephaly type A) LD20.1
30 20069561 滑脳症候群、ノーマン・ロバーツ型(Lissencephaly syndrome, Norman-Roberts type) LD20.1
31 20069562 小脳滑脳症B型(Microlissencephaly type B) LD20.1
32 20069563 TUBA1A遺伝子変異による滑脳症(Lissencephaly due to TUBA1A gene mutation) LD20.1
33 20069564 X連鎖性滑脳症・脳梁無発生・生殖器異常(X-linked lissencephaly - agenesis of corpus callosum - genital anomalies) LD20.1
34 20069565 頭蓋終脳異形成(Craniotelencephalic dysplasia) LD20.1
35 20069566 ミクロ症候群(Micro syndrome) LD20.1
36 20069567 ワールブルグ・ ミクロ症候群(Warburg Micro syndrome) LD20.1
37 20069568 WARBM1[ワールブルグ・ミクロ症候群](WARBM1 - [Warburg Micro syndrome]) LD20.1
38 20069569 眼瞼下垂を伴う虹彩欠損症-知的障害(Iris coloboma with ptosis - intellectual deficit) LD20.1