LD21.0
以小眼为主要特征的综合征
Syndromes with microphthalmia as a major feature
- 层级
- 4 级
定义
异常小眼构成重要组成部分的综合征。
Syndromes in which abnormally small eyes form an important component.
索引词 可用于检索该条目的同义词与别名
- 以小眼为主要特征的综合征
- 综合征相关性小眼
- MIDAS综合征相关性小眼
- Fryns综合征相关性小眼
- 腮-眼-面综合征相关性小眼球
- Delleman综合征相关性小眼
- Lenz小眼畸形相关性小眼
- 生长发育迟缓、眼部畸形、小头畸形、短指（短趾）和精神发育不全相关性小眼
- GOMBO相关性小眼
- 小眼球畸形相关其他证候
- 综合征型真性小眼球伴Kenny-Caffey综合征
- 综合征型真性小眼球伴常染色体显性遗传玻璃体视网膜脉络膜病
- 综合征型真性小眼球伴ADVIRC[常染色体显性遗传玻璃体视网膜脉络膜病]
- 小眼畸形，Lenz型
- 综合征型小眼畸形1型
- 眼-面-心-牙综合征
- 综合征型小眼畸形2型
- 无眼或小眼畸形-食管闭锁
- 综合征型小眼畸形3型
- 小眼畸形-睑缘粘连-智力缺陷
- 综合征型小眼畸形4型
- OTX2基因突变引起的综合征型小眼畸形
- 综合征型小眼畸形5型
- Bakrania-Ragge综合征
- 综合征型小眼畸形6型
- 小眼畸形、皮肤发育不良和角膜硬化综合征
- MIDAS综合征
- 综合征型小眼畸形7型
- 小眼畸形、皮肤发育不良和巩膜化角膜
- 小头畸形、小眼畸形、先天缺趾和下颌前突综合征
- MMEP综合征
- 综合征型小眼畸形8型
- MCOPS8
- 小头畸形-小眼畸形-先天缺趾-下颌前突
- Viljoen-Smart综合征
- 无眼畸形-肺发育不良
- MCOPS9[综合征型小眼畸形9型]
- Matthew-Wood综合征
- 综合征型小眼畸形9型
- 小眼畸形-脑萎缩
- 综合征型小眼畸形10型
- 眼肢端综合征
- 小眼畸形伴肢体异常
英文词条（43）
- Syndromes with microphthalmia as a major feature
- Microphthalmos associated with syndromes
- Microphthalmos associated with MIDAS syndrome
- Microphthalmos associated with Fryns syndrome
- Microphthalmos associated with Branchio-oculo-facial syndrome
- Microphthalmos associated with Delleman syndrome
- Microphthalmos associated with Lenz microphthalmia
- Microphthalmos associated with growth retardation, ocular abnormalities, microcephaly, brachydactyly and oligophrenia
- Microphthalmos associated with GOMBO
- Microphthalmos associated with other syndromes
- Syndromic nanophthalmos with Kenny-Caffey syndrome
- Syndromic nanophthalmos with autosomal dominant vitreoretinochoroidopathy
- Syndromic nanophthalmos with ADVIRC - [autosomal dominant vitreoretinochoroidopathy]
- Microphthalmia, Lenz type
- Syndromic microphthalmia type 1
- Oculo-facio-cardio-dental syndrome
- Syndromic microphthalmia type 2
- Anophthalmia or microphthalmia - oesophageal atresia
- Syndromic microphthalmia type 3
- Microphthalmia - ankyloblepharon - intellectual deficit
- Syndromic microphthalmia type 4
- Syndromic microphthalmia due to OTX2 mutation
- Syndromic microphthalmia type 5
- Bakrania-Ragge syndrome
- Syndromic microphthalmia type 6
- Microphthalmia, dermal aplasia, and sclerocornea syndrome
- MIDAS syndrome
- Microphthalmia, dermal aplasia, and sclerocornea
- Syndromic microphthalmia type 7
- Microcephaly, microphthalmia, ectrodactyly of lower limbs, prognathism syndrome
- MCOPS8
- MMEP syndrome
- Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
- Syndromic microphthalmia type 8
- Viljoen-Smart syndrome
- Anophthalmia - pulmonary hypoplasia
- MCOPS9 - [Syndromic microphthalmia type 9]
- Matthew-Wood syndrome
- Syndromic microphthalmia type 9
- Microphthalmia - brain atrophy
- Syndromic microphthalmia type 10
- Ophthalmoacromelic syndrome
- Microphthalmia with limb anomalies
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。
- 侧别laterality可选