| 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 |