LD24.04
点状软骨发育不良
Chondrodysplasia punctata
- 上级条目
- LD24.0 短肢综合征
- 层级
- 5 级
索引词 可用于检索该条目的同义词与别名
- 点状软骨发育不良
- 点状软骨发育异常（点刻状骨骺）组
- 先天性点状软骨发育不良
- 点状骨骺发育异常
- 点状骨骺发育不良
- 点状骨骺发育不良
- 点状软骨发育不良
- 肢根点状软骨发育不良
- RCDP[肢根点状软骨发育不良]
- 常染色体隐性遗传点状软骨发育不良
- 肢近端型点状软骨发育不良
- 肢根点状软骨发育不良1型
- RCDP1[肢根点状软骨发育不良1型]
- PTS2受体缺乏
- PEX7缺乏
- 肢近端型点状软骨发育不良1型
- 肢根点状软骨发育不良2型
- RCDP 2型[肢根点状软骨发育不良2型]
- 单纯性DHAP-AT缺乏
- 单纯性磷酸二羟丙酮酰基转移酶缺乏症
- 肢近端型点状软骨发育不良2型
- 肢根点状软骨发育不良3型
- 孤立性烷基二羟基丙酮磷酸合酶缺乏症
- RCDP 3型[肢根点状软骨发育不良3型]
- 单纯性烷基DHAP合酶缺乏症
- 肢近端型点状软骨发育不良3型
- X连锁显性遗传点状软骨发育不良
- CDPX2[X连锁显性遗传点状软骨发育不良]
- 先天性钙化软骨营养障碍
- Conradi-Hünermann-Happle综合征
- 泛发性钙质沉着症
- 固醇D8-D7异构酶缺乏症
- 点状骨骺
- 斑点状软骨发育异常
- 点状软骨营养障碍
- 点状软骨发育不良，远节指骨短小型
- 点状软骨发育不良，胫骨-掌骨型
- 点状软骨发育不良，Toriello型
- Toriello-Higgins-Miller综合征
- Greenberg发育不良
- HEM[积水-异位钙化-虫蚀状骨骼发育不良]
- 积水-异位钙化-虫蚀状骨骼发育不良
- 3-β-脱氢胆固醇δ-14-还原酶缺乏
- 先天性偏侧发育不良，伴鱼鳞病样红皮病及肢体缺陷
- CHILD[先天性偏侧发育不良、鱼鳞病样红皮病及肢体缺陷]综合征
- 3-β-羟基类固醇C-4脱氢酶缺乏
- Astley-Kendall发育不良
- 斑状骨干发育不良
- 点状软骨发育不良，Sheffield型
- 母源性点状软骨发育不良
英文词条（43）
- Chondrodysplasia punctata
- chondrodysplasia punctata (stippled epiphyses) group
- chondrodysplasia punctata congenita
- chondrodystrophy of punctata
- dysplasia epiphysealis punctata
- dysplasia punctata
- dysplasia punctata epiphysis
- Rhizomelic chondrodysplasia punctata
- Chondrodysplasia punctata, autosomal recessive type
- RCDP - [rhizomelic chondrodysplasia punctata]
- Rhizomelic chondrodysplasia punctata type 1
- PEX7 deficiency
- PTS2 receptor deficiency
- RCDP1 - [rhizomelic chondrodysplasia punctata type 1]
- Rhizomelic chondrodysplasia punctata type 2
- Isolated DHAP-AT deficiency
- Isolated dihydroxyacetone phosphate acyltransferase deficiency
- RCDP type 2 - [rhizomelic chondrodysplasia punctata type 2]
- Rhizomelic chondrodysplasia punctata type 3
- Isolated alkyl DHAP synthase deficiency
- Isolated alkyl dihydroxyacetone phosphate synthase deficiency
- RCDP type 3 - [rhizomelic chondrodysplasia punctata type 3]
- Chondrodysplasia punctata, X-linked dominant
- CDPX2 - [Chondrodysplasia punctata, X-linked dominant]
- Calcinosis universalis
- Chondrodystrophia calcificans congenita
- Conradi-Hünermann-Happle syndrome
- Sterol D8-D7 isomerase deficiency
- Chondrodysplasia punctata, brachytelephalangic type
- Chondrodysplasia punctata, tibial-metacarpal type
- Chondrodysplasia punctata, Toriello type
- Toriello-Higgins-Miller syndrome
- Greenberg dysplasia
- 3-beta-hydroxysterol delta-14-reductase deficiency
- HEM - [Hydrops - ectopic calcification - motheaten] skeletal dysplasia
- Hydrops - ectopic calcification - motheaten skeletal dysplasia
- Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects
- 3-beta-hydroxysteroid C-4 dehydrogenase deficiency
- CHILD - [Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects] syndrome
- Astley-Kendall dysplasia
- Dappled diaphyseal dysplasia
- Chondrodysplasia punctata, Sheffield type
- Chondrodysplasia punctata from maternal disease
后组配轴 Postcoordination
后组配是在主干编码之后追加的可选扩展轴（如侧别、具体解剖部位、严重程度），用于把「部位 + 侧别 + 病程」等细节一次表达完整。只有标注「必填」的轴在组合编码时必须给出，其余可留空。
- 具体解剖部位specificAnatomy可选