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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 Reference Sets
3322322014 Ehlers-Danlos syndrome musculocontractural type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3322323016 Ehlers-Danlos syndrome musculocontractural type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3322324010 Ehlers-Danlos syndrome Kosho type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3322325011 Adducted thumbs, arthrogryposis syndrome, Dundar type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3322326012 Ehlers-Danlos syndrome arthrogryposic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation 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 (disorder) 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 kongenit 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 kongenit 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 dysgenese 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 kongenit 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 (disorder) 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 kongenit 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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