| LD20.2 主な特徴として小頭症を伴う症候群(Syndromes with microcephaly as a major feature) |
|
分類ID |
分類名 |
ICD11 |
| 1 |
10222430 |
主な特徴として小頭症を伴う症候群(Syndromes with microcephaly as a major feature) |
LD20.2 |
| 2 |
20069571 |
小頭症・頸椎癒合異常(Microcephaly - cervical spine fusion anomalies) |
LD20.2 |
| 3 |
20069572 |
小頭症・脳病変・痙縮・高ナトリウム血症(Microcephaly - brain defect - spasticity - hypernatremia) |
LD20.2 |
| 4 |
20069573 |
小頭症・小角膜症候群、セーマノヴァ型(Microcephaly-microcornea syndrome, Seemanova type) |
LD20.2 |
| 5 |
20069574 |
小頭症、アーミッシュ型(Microcephaly, Amish type) |
LD20.2 |
| 6 |
20069575 |
ミトコンドリアチアミンピロリン酸輸送体欠損症(Mitochondrial thiamine pyrophosphate carrier deficiency) |
LD20.2 |
| 7 |
20069576 |
ボーエン・コンラディ症候群(Bowen-Conradi syndrome) |
LD20.2 |
| 8 |
20069577 |
小頭症を伴う重症新生児発症脳症(Severe neonatal-onset encephalopathy with microcephaly) |
LD20.2 |
| 9 |
20069578 |
先天性子宮内感染様症候群(Congenital intrauterine infection-like syndrome) |
LD20.2 |
| 10 |
20069579 |
偽TORCH症候群(Pseudo-TORCH syndrome) |
LD20.2 |
| 11 |
20069580 |
小頭型骨異形成性原発性低身長症1型及び3型(Microcephalic osteodysplastic primordial dwarfism types 1 and 3) |
LD20.2 |
| 12 |
20069581 |
小頭型骨異形成性原発性低身長症1型及び3型(Microcephalic osteodysplastic primordial short stature types 1 and 3) |
LD20.2 |
| 13 |
20069582 |
MOPD[小頭型骨異形成性原発性低身長症]1型及び3型(MOPD - [microcephalic osteodysplastic primordial dwarfism] types 1 and 3) |
LD20.2 |
| 14 |
20069583 |
小頭型骨異形成性原発性低身長症2型(Microcephalic osteodysplastic primordial dwarfism type 2) |
LD20.2 |
| 15 |
20069584 |
小頭型骨異形成性原発性低身長症2型(Microcephalic osteodysplastic primordial short stature type 2) |
LD20.2 |
| 16 |
20069585 |
小頭型骨異形成性原発性低身長症II型(Microcephalic osteodysplastic primordial dwarfism type II) |
LD20.2 |
| 17 |
20069586 |
MPOD[小頭型骨異形成性原発性低身長症]2型(MPOD - [microcephalic osteodysplastic primordial dwarfism] type 2) |
LD20.2 |
| 18 |
20069587 |
知的発達障害及び橋及び小脳低形成を伴う小頭症(Intellectual development disorder and microcephaly with pontine and cerebellar hypoplasia) |
LD20.2 |
| 19 |
20069588 |
MICPCH[橋及び小脳低形成を伴う知的障害及び小頭症](MICPCH - [mental retardation and microcephaly with pontine and cerebellar hypoplasia]) |
LD20.2 |