DiseaseID 18563

并指（趾）畸形

disease

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Disease: 1Symptom: 1Target: 12Links: 13

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Record Fields

Scalar fields from the final disease record.

Disease Id: 18563
Core Entity Id: 76981
Source Entity Count: 1
Preferred Name: Syndactyly
Name Cn: 并指（趾）畸形
Name Pinyin: Bing Zhi （ Zhi ） Ji Xing
Name En: Syndactyly
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Congenital Abnormality
Disgenet Type: disease
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases
Do Class: disease of anatomical entitygenetic disease
Hpo Class: Abnormality of the skeletal system; Abnormality of limbs
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases
Hpo Class Name: Abnormality of limbs; Abnormality of the skeletal system
Do Class Name: disease of anatomical entitygenetic disease
Disease Definition: NCI2016_02D:A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.|MSH2017_2016_08_12:A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.|HPO2016_07_04:Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism"." [HPO:probinson]
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Syndactyly

Role

preferred

Name

Symphalangism, Proximal, 1A

Role

preferred

Name

Symphalangism, Proximal, 1B

Role

preferred

Name

Syndactyly Type 4

Role

preferred

Name

Syndactyly, Type Iv

Role

preferred

Name

Synpolydactyly 2

Role

preferred

Name

Craniosynostosis, Philadelphia Type

Role

preferred

Name

Polysyndactyly

Role

preferred

Name

Proximal Symphalangism

Role

preferred

Name

SYNDACTYLY, TYPE III

Role

preferred

Name

Syndactyly Type 8

Role

preferred

Name

Syndactyly of Fingers

Role

preferred

Name

Syndactyly of Toes With Fusion of Bones

Role

preferred

Name

Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction

Role

preferred

Name

Syndactyly, Type 2

Role

preferred

Name

Syndactyly, Type I

Role

preferred

Name

Syndactyly, Type V

Role

preferred

Name

Synpolydactyly 3

Role

preferred

Name

CUSHING SYMPHALANGISM

Role

alias

Name

Chromosome 2Q35 Duplication Syndrome

Role

alias

Name

Finger Syndactyly

Role

alias

Name

Fused Toes

Role

alias

Name

HAAS TYPE SYNDACTYLY

Role

alias

Name

HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS

Role

alias

Name

Osseous Syndactyly of The Toes

Role

alias

Name

Osseous Syndactyly of Toes

Role

alias

Name

Partial Syndactyly

Role

alias

Name

Polysyndactyly, Haas Type

Role

alias

Name

SD4

Role

alias

Name

SDTY4

Role

alias

Name

SPD2

Role

alias

Name

SYM1

Role

alias

Name

SYM1A

Role

alias

Name

SYM1B

Role

alias

Name

SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES

Role

alias

Name

Sdty2

Role

alias

Name

Syndactyly, Type 3

Role

alias

Name

Syndactyly, Unspecified

Role

alias

Name

Synpolydactyly

Role

alias

Name

Synpolydactyly 1

Role

alias

Name

Webbed Fingers

Role

alias

Name

Webbed Fingers Or Toes

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0001159HP:0006101HP:0010717

Herb

HBDIS002887HBDIS004079HBDIS004633HBDIS005849HBDIS015093HBDIS015937HBDIS016934HBDIS017849HBDIS017852HBDIS017855HBDIS019619HBDIS022121HBDIS022318HBDIS028782HBDIS028993

Me Sh

D013576

Omim

185800186000186100186200186300608180615298

Umls

C0039075C1836206C1839728C1842422C1861348C1861355C1861366C1861385C3714899C3809104

Icd10

Q70Q70.0Q70.1Q70.2Q70.4Q70.9

Sym Map

SMDE00507SMDE00887SMDE01910SMDE02001SMDE02593SMDE04299SMDE04353SMDE04381SMDE04996SMDE05159SMDE13762

Do Class

DOID:630DOID:7

Dis Ge Net

C0039075C0158738C0221352C0265553C1832590C1836206C1842422C1853255C1861348C1861355C1861366C1861380C2699746C3714899C3809104

Orphanet

15780124983250934049340593406

Umls Sty

T019T047

Hpo Class

HP:0000924HP:0040064

Me Sh Class

C05C13C16

Tcmbank Disease

1651319454205482073921772235852562425734259955587603873039073

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v2

Suppress

Do Class Name

disease of anatomical entitygenetic disease

Disease Type

disease

Hpo Class Name

Abnormality of limbs; Abnormality of the skeletal system

Link Disease Id

4381.0

Do Disease Class

disease of anatomical entitygenetic disease

Hpo Disease Class

Abnormality of the skeletal system; Abnormality of limbs

Umls Disease Type

Congenital AbnormalityDisease or Syndrome

Disease Definition

NCI2016_02D:A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.|MSH2017_2016_08_12:A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.|HPO2016_07_04:Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism"." [HPO:probinson]Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patieSNOMEDCT_US_2016_09_01:A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner.Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases

Dis Ge Net Disease Type

disease

Disease Class Name Me Sh

Umls Semantic Type Name

Congenital AbnormalityDisease or Syndrome