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897570002: Distal arthrogryposis type 3 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4034345017 Distal arthrogryposis type 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4034347013 Distal arthrogryposis type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171584014 Camptodactyly, cleft palate, clubfoot syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5171585010 Distal arthrogryposis type IIA en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5171586011 Gordon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408886019 Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408887011 Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterised by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal arthrogryposis type 3 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Is a Cleft palate true Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Is a Short stature disorder true Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Is a Distal arthrogryposis syndrome true Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Distal arthrogryposis type 3 (disorder) Occurrence Congenital true Inferred relationship Some 1
Distal arthrogryposis type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal arthrogryposis type 3 (disorder) Finding site Palatal structure true Inferred relationship Some 1
Distal arthrogryposis type 3 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Distal arthrogryposis type 3 (disorder) Associated morphology Contracture true Inferred relationship Some 2
Distal arthrogryposis type 3 (disorder) Finding site Structure of joint region true Inferred relationship Some 2
Distal arthrogryposis type 3 (disorder) Occurrence Congenital true Inferred relationship Some 2
Distal arthrogryposis type 3 (disorder) Has interpretation Decreased true Inferred relationship Some 3
Distal arthrogryposis type 3 (disorder) Interprets Range of joint movement true Inferred relationship Some 3
Distal arthrogryposis type 3 (disorder) Finding site Bone structure of head false Inferred relationship Some 4
Distal arthrogryposis type 3 (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Distal arthrogryposis type 3 (disorder) Occurrence Congenital false Inferred relationship Some 4
Distal arthrogryposis type 3 (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Distal arthrogryposis type 3 (disorder) Interprets Height / growth measure false Inferred relationship Some 5
Distal arthrogryposis type 3 (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Distal arthrogryposis type 3 (disorder) Interprets Body height measure (observable entity) true Inferred relationship Some 4
Distal arthrogryposis type 3 (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Distal arthrogryposis type 3 (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 5
Distal arthrogryposis type 3 (disorder) Associated morphology Contracture true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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