非环境引起的多发性结构异常综合征 / Syndromes with multiple structural anomalies, not of environmental origin

http://purl.bmicc.cn/ontology/ICD11CN/LD2F.1

Cataract - intellectual deficit - hypogonadism (5A61.0)

Macrocephaly – alopecia – cutis laxa – scoliosis syndrome (LD28.2)

Smith-Magenis syndrome (LD44.H1)

Blepharocheilodontic syndrome (LD27.0Y)

Lethal restrictive dermopathy (EE6Y)

Fraser syndrome (LD2H.0)

Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness (LD2H.Y)

SCARF syndrome (LD28.2)

Dubowitz syndrome (LD27.0Y)

Dahlberg-Borer-Newcomer syndrome (LD27.0Y)

Bardet-Biedl syndrome (5A61.0)

Ectrodactyly - ectodermal dysplasia - cleft lip or palate (LD27.0Y)

WAGR syndrome (LD2A.Y)

Oculocerebrorenal syndrome (5C60.0)

Phocomelia - ectrodactyly - deafness - sinus arrhythmia (LD2H.Y)

Limb-mammary syndrome (LD27.0Y)

Gorham-Stout disease (FB86.2)

Coffin-Siris syndrome (LD27.0Y)

Alagille syndrome (LB20.0Y)

Deafness – onychodystrophy (LD27.0Y)

Marshall syndrome (LD27.0Y)

Ectodermal dysplasia - ectrodactyly - macular dystrophy (LD27.0Y)

MODY 5 syndrome (5A13.6)

Hirschsprung disease - deafness - polydactyly (LD2H.Y)

Nijmegen breakage syndrome-like disorder (4A01.31)

Split hand - split foot - deafness (LD2H.Y)

Waardenburg syndrome (EC23.2Y)

Encephalocraniocutaneous lipomatosis (EF02.1)

Autosomal recessive cutis laxa, type 3 (LD28.2)

Cat-eye syndrome (LD41.P)

Ectrodactyly - ectodermal dysplasia without clefting (LD27.0Y)

Waardenburg-Shah syndrome (LD2H.3)

Papillorenal syndrome (LA13.7Y)

Triple A syndrome (5A74.Y)

Williams-Beuren syndrome (LD44.70)

CHARGE syndrome (5A61.0)

Shwachman-Diamond syndrome (3A70.0)

Perrault syndrome (LD2H.Y)

http://id.who.int/icd/release/11/2019-04/mms/1106405864

非环境引起的多发性结构异常综合征 / Syndromes with multiple structural anomalies, not of environmental origin

http://purl.bmicc.cn/ontology/ICD10CN/Q87.8

LD2F.1

ICD11CN:LD2F.1

非环境引起的多发性结构异常综合征 / Syndromes with multiple structural anomalies, not of environmental origin

http://purl.bmicc.cn/ontology/ICD11CN/LD2F