FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

786039009: Arthrogryposis and ectodermal dysplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3770082019 Arthrogryposis and ectodermal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3770083012 Stoll Alembik Finck syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3770084018 Arthrogryposis and ectodermal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3770085017 Arthrogryposis, ectodermal dysplasia, other anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3770086016 A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. 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
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) Flexion deformity false Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) Structure of joint region true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Camptodactyly true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Inherited arthrogryposis true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome a pour interprétation (attribut) Decreased true Inferred relationship Some 6
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome interprète (attribut) Range of joint movement true Inferred relationship Some 6
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) déformation en flexion de la main true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) constatation à propos de la structure musculosquelettique d'un doigt de la main true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Congenital anomaly of hand (disorder) false Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) Musculoskeletal system structure of digit (body structure) false Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand false Inferred relationship Some 9
Arthrogryposis and ectodermal dysplasia syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 9
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) congénital false Inferred relationship Some 9
Arthrogryposis and ectodermal dysplasia syndrome morphologie associée (attribut) Flexion deformity false Inferred relationship Some 9
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) Congenital deformity of hand (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start