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720860004: Ehlers-Danlos syndrome musculocontractural type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322322014 Ehlers-Danlos syndrome musculocontractural type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322323016 Ehlers-Danlos syndrome musculocontractural type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322324010 Ehlers-Danlos syndrome Kosho type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322325011 Adducted thumbs, arthrogryposis syndrome, Dundar type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322326012 Ehlers-Danlos syndrome arthrogryposic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322327015 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322328013 A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, haemorrhagic diathesis and multisystem fragility-related manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3887951000052114 Ehlers-Danlos syndrom, muskelkontrakturtyp sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Distal arthrogryposis syndrome true Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Ehlers-Danlos syndrome (disorder) true Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence Congenital true Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Bone structure false Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 5
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence Congenital false Inferred relationship Some 5
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence Congenital true Inferred relationship Some 6
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence Congenital false Inferred relationship Some 7
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Face structure false Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Contracture false Inferred relationship Some 6
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Joint structure false Inferred relationship Some 6
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 7
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Skin structure false Inferred relationship Some 7
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Contracture true Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Bone structure false Inferred relationship Some 5
Ehlers-Danlos syndrome musculocontractural type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ehlers-Danlos syndrome musculocontractural type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence Congenital true Inferred relationship Some 3
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Congenital anomaly of bone and joint false Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Bone structure true Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence Congenital true Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence Congenital true Inferred relationship Some 2
Ehlers-Danlos syndrome musculocontractural type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Inherited arthrogryposis false Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 2
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Face structure true Inferred relationship Some 3
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Contracture false Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Skin structure true Inferred relationship Some 2
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Joint structure false Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a Skeletal dysplasia false Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Connective tissue structure true Inferred relationship Some 6
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Ehlers-Danlos syndrome musculocontractural type (disorder) Interprets Range of joint movement true Inferred relationship Some 5
Ehlers-Danlos syndrome musculocontractural type (disorder) Has interpretation Decreased true Inferred relationship Some 5
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Structure of joint region true Inferred relationship Some 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 6
Ehlers-Danlos syndrome musculocontractural type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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