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720859009: Ehlers-Danlos syndrome kyphoscoliotic and deafness 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
3322317014 Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322318016 Ehlers-Danlos syndrome kyphoscoliotic and deafness type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322319012 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322320018 Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591661018 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322321019 A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. 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 kyphoscoliotic and deafness type (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Ehlers-Danlos syndrome (disorder) false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Congenital kyphoscoliosis (disorder) false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Ear structure false Inferred relationship Some 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Interprets Hearing true Inferred relationship Some 6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Interprets Functional observable false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital false Inferred relationship Some 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital false Inferred relationship Some 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Lateral abnormal curvature false Inferred relationship Some 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital false Inferred relationship Some 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Musculoskeletal structure of spine false Inferred relationship Some 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Skin structure false Inferred relationship Some 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Bone structure false Inferred relationship Some 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Musculoskeletal structure of spine true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Skin structure false Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Bone structure false Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Congenital anomaly of vertebral region of back false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Lateral abnormal curvature true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Skin structure true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Bone structure true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Skeletal dysplasia false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Congenital deformity false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Connective tissue structure true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Congenital deformity of spine false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a Ehlers-Danlos syndrome kyphoscoliotic type (disorder) true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Has interpretation Impaired true Inferred relationship Some 6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Finding site Musculoskeletal structure of spine true Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology Anteroposterior abnormal curvature (morphologic abnormality) true Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence Congenital true Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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