LD2H.Y
其他特指的遗传性耳聋综合征
Other specified syndromic genetic deafness
- 上级条目
- LD2H 遗传性耳聋综合征
- 层级
- 4 级
索引词 可用于检索该条目的同义词与别名
- 其他特指的遗传性耳聋综合征
- 白化病-黑发-肠道神经细胞迁移疾患-感音神经性聋
- ABCD[白化病-黑发-肠道神经细胞迁移疾患-感音神经性聋]综合征
- 白化病-聋综合征
- Alström综合征
- 共济失调-耳聋-智力残疾综合征
- Athabaskan脑干发育不全综合征
- 动脉粥样硬化-耳聋-糖尿病-癫痫-肾病
- 双侧小耳畸形-耳聋-腭裂
- Bosley-Salih-Alorainy综合征
- Brown-Vialetto-van Laere综合征
- 感音神经性聋-脑桥延髓麻痹
- 感音神经性听力损失-脑桥延髓麻痹
- 白内障-共济失调-耳聋
- 白内障-耳聋-性腺功能减退
- 尾部附肢-耳聋
- 中枢神经系统钙化-耳聋-肾小管酸中毒-贫血
- 后鼻孔闭锁-耳聋-心脏缺损-畸形
- 无脉络膜-耳聋-肥胖
- 唇腭裂-耳聋-骶部脂肪瘤
- 耳蜗囊性变性-白内障
- 角膜感觉缺失-耳聋-智力残疾
- 角膜营养不良-感音性聋
- 颅面-聋-手综合征
- 聋-盲-色素减退综合征，Yemenite型
- 耳聋-颅面综合征
- 耳聋-骨骺发育不良-矮小症
- 耳聋-生殖器异常-掌骨和跖骨融合
- 耳聋-性腺功能减退
- 耳聋-智力缺陷综合征，Martin-Probst型
- Martin-Probst综合征
- 耳聋-少牙畸形
- 耳聋-周围神经病变-动脉疾病
- 耳聋-骨骼发育不良-唇肉芽肿
- Fountain综合征
- 耳聋-小肠憩室病-神经病
- 耳聋-白癜风-贲门失弛缓症
- 耳聋-不育综合征
- 15q15.3缺失
- 15q15.3缺失综合征
- 15q15.3单体
- 牙本质发育不全-矮小症-听力损失-智力缺陷
- 生长发育迟缓-耳聋，Hildebrand型
- 发育畸形-耳聋-肌张力障碍
- Ermine表型
- 牙龈纤维瘤病-进行性聋
- 听力丧失-家族性涎腺对醛固酮不敏感
- 听力丧失-家族性唾液腺对醛固酮不敏感
- 先天性巨结肠-聋-多指（多趾）畸形
- 尿道下裂-眶距增宽症-眼缺损和耳聋
- 虹膜发育异常-眶距增宽症-耳聋
- 致死共济失调伴耳聋和视神经萎缩
- Arts综合征
- 脂肪营养不良-智力缺陷-耳聋
- Lowe-Kohn-Cohen综合征
- 耳聋-肾炎-肛门直肠畸形
- 母系遗传性糖尿病伴耳聋
- 线粒体糖尿病
- 颌鼻发育不良
- 智力残疾-肠病-耳聋-神经病变-鱼鳞病-角化病综合征
- MEDNIK[精神发育迟滞-肠病-耳聋-神经病变-鱼鳞病-角化病]综合征
- 精神发育迟滞-肠病-耳聋-神经病变-鱼鳞病-角化病综合征
- 智力低下-肠病-耳聋-神经病变-鱼鳞病-角化病综合征
- 小头畸形-耳聋-智力残疾
- 小牙-小耳畸形I型-聋
- 耳聋伴迷路发育不良、小耳畸形和小牙畸形
- 二尖瓣反流-耳聋-骨骼系统发育异常
- 肌阵挛-小脑共济失调-耳聋
- N综合征
- 肾病-耳聋-甲状旁腺功能亢进症
- 肾病-耳聋-尿路-指（趾）畸形
- 中性粒细胞减少-单核细胞减少-耳聋
- 橄榄体脑桥小脑萎缩-耳聋
- 骨软骨发育不良性矮小症-耳聋-视网膜色素变性
- 骨软骨营养不良性矮小症-耳聋-视网膜色素变性
- 周围神经病，Fiskerstrand型
- Perrault综合征
- 佩罗综合征
- 海豹肢-先天缺指(趾)-耳聋-窦性心律失常
- Kearns–Sayre综合征引起的肥厚型心肌病
- 进行性感音神经性聋-肥厚型心肌病
- 肥厚型心肌病伴进行性感音神经性聋
- 克恩-塞尔综合征引起的肥厚型心肌病
- 卡恩斯-塞尔综合征引起的肥厚型心肌病
- 视网膜色素变性-智力残疾-耳聋-性腺发育不全
- Richards-Rundle综合征
- 精神分裂症-智力残疾-耳聋-视网膜炎
- 感音神经性听力损失-早衰-特发性震颤
- 感音神经性聋-早衰-原发性震颤
- 感音神经性聋-头发早白-原发性震颤综合征
- SeSAME综合征
- EAST综合征
- 矮小症-耳聋-中性粒细胞功能障碍-面部畸形
- 痉挛性瘫痪-耳聋
- 痉挛性截瘫-耳聋
- 分裂手-分裂足-耳聋
- 耳垂增厚-传导性聋
- 耳聋-视神经萎缩综合征
- 常染色体显性遗传视神经萎缩和先天性耳聋
- 视神经萎缩、耳聋、眼肌麻痹、肌病
- 眼白化病-迟发性感音神经性聋
- 痉挛性截瘫-肾炎-耳聋
- 干髓端发育不全-智力缺陷-传导性聋
- 指节垫–白甲–感音神经性聋
- Bart-Pumphrey综合征（MIM149200）
- Alport综合征
- 常染色体显性遗传Alport综合征
- 常染色体隐性遗传Alport综合征
- X连锁Alport综合征
- Alport综合征，X连锁弥漫性平滑肌瘤病
- 心-耳综合征
英文词条（101）
- Other specified syndromic genetic deafness
- Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness
- ABCD - [Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness] syndrome
- Albinism-deafness syndrome
- Alström syndrome
- Ataxia - deafness - intellectual disability syndrome
- Athabaskan brainstem dysgenesis syndrome
- Atherosclerosis - deafness - diabetes - epilepsy - nephropathy
- Bilateral microtia - deafness - cleft palate
- Bosley-Salih-Alorainy syndrome
- Brown-Vialetto-van Laere syndrome
- Sensorineural hearing loss - pontobulbar palsy
- Cataract - ataxia - deafness
- Cataract - deafness - hypogonadism
- Caudal appendage - deafness
- Central nervous system calcification - deafness - tubular acidosis - anaemia
- Choanal atresia - deafness - cardiac defects - dysmorphism
- Choroideremia - deafness - obesity
- Cleft lip or palate - deafness - sacral lipoma
- Cochleosaccular degeneration - cataract
- Corneal anaesthesia - deafness - intellectual disability
- Corneal dystrophy - perceptive deafness
- Craniofacial-deafness-hand syndrome
- Deaf blind hypopigmentation syndrome, Yemenite type
- Deafness - craniofacial syndrome
- Deafness - epiphyseal dysplasia - short stature
- Deafness - genital anomalies - metacarpal and metatarsal synostosis
- Deafness - hypogonadism
- Deafness - intellectual deficit syndrome, Martin-Probst type
- Martin-Probst syndrome
- Deafness - oligodontia
- Deafness - peripheral neuropathy - arterial disease
- Deafness - skeletal dysplasia - lip granuloma
- Fountain syndrome
- Deafness - small bowel diverticulosis - neuropathy
- Deafness - vitiligo - achalasia
- Deafness-infertility syndrome
- 15q15.3 deletion
- 15q15.3 deletion syndrome
- Monosomy 15q15.3
- Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit
- Developmental delay - deafness, Hildebrand type
- Developmental malformations - deafness - dystonia
- Ermine phenotype
- Gingival fibromatosis - progressive deafness
- Hearing loss - familial salivary gland insensitivity to aldosterone
- Hirschsprung disease - deafness - polydactyly
- Hypospadias-hypertelorism-coloboma and deafness
- Iris dysplasia - hypertelorism - deafness
- Lethal ataxia with deafness and optic atrophy
- Arts syndrome
- Lipodystrophy - intellectual deficit - deafness
- Lowe-Kohn-Cohen syndrome
- Deafness - nephritis - anorectal malformation
- Maternally inherited diabetes and deafness
- Mitochondrial diabetes
- Maxillonasal dysplasia
- Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome
- MEDNIK - [Mental retardation – enteropathy – deafness – neuropathy – ichthyosis – keratoderma] syndrome
- Mental retardation – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome
- Microcephaly - deafness - intellectual disability
- Microdontia - microtia type I - deafness
- Deafness with labyrinthine aplasia, microtia, and microdontia
- Mitral regurgitation - deafness - skeletal anomalies
- Myoclonus - cerebellar ataxia - deafness
- N syndrome
- Nephropathy - deafness - hyperparathyroidism
- Nephrosis - deafness - urinary tract - digital malformations
- Neutropaenia - monocytopaenia - deafness
- Olivopontocerebellar atrophy - deafness
- Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
- Peripheral neuropathy, Fiskerstrand type
- Perrault syndrome
- Phocomelia - ectrodactyly - deafness - sinus arrhythmia
- Hypertrophic cardiomyopathy due to Kearns–Sayre syndrome
- Hypertrophic cardiomyopathy associated with progressive sensorineural hearing loss
- progressive sensorineural hearing loss - hypertrophic cardiomyopathy
- Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism
- Richards-Rundle syndrome
- Schizophrenia - intellectual disability - deafness - retinitis
- Sensorineural hearing loss - early greying - essential tremor
- SeSAME syndrome
- EAST syndrome
- Short stature - deafness - neutrophil dysfunction - dysmorphism
- Spastic paraparesis - deafness
- Split hand - split foot - deafness
- Thickened earlobes - conductive deafness
- Deafness - optic atrophy syndrome
- Autosomal dominant optic atrophy and congenital deafness
- Optic atrophy, deafness, ophthalmoplegia, myopathy
- Ocular albinism - late-onset sensorineural deafness
- Spastic paraplegia - nephritis - deafness
- Metaphyseal dysostosis - intellectual deficit - conductive deafness
- Knuckle pads – leukonychia – sensorineural deafness
- Bart-Pumphrey syndrome (MIM 149200)
- Alport syndrome
- Alport syndrome, autosomal dominant
- Alport syndrome, autosomal recessive
- Alport syndrome, X-linked
- Alport syndrome, X-linked diffuse leiomyomatosis
- Cardioauditory syndrome
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。