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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
5402512012 A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402513019 A rare systemic disease characterised by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. 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
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 Congenital dysplasia 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 Congenital dysplasia 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 Developmental anomaly 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 Congenital dysplasia 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 true Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Congenital dysplasia 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
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 7
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology Contracture true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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