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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
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
3390691001000116 Arthrogrypose mit ektodermaler Dysplasie und anderen Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5767221000241117 syndrome d'arthrogrypose et de dysplasie ectodermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5767241000241113 syndrome de Stoll-Alembik-Finck fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5767221000241117 syndrome d'arthrogrypose et de dysplasie ectodermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5767241000241113 syndrome de Stoll-Alembik-Finck fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390691001000116 Arthrogrypose mit ektodermaler Dysplasie und anderen Anomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 5
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept) 5
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 4
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 4
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Camptodactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 6
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 8
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 8
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Flexion deformity of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Congenital anomaly of hand (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Musculoskeletal system structure of digit (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 9
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 9
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. true Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 9
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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