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720859009: Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3322318016 Ehlers-Danlos syndrome kyphoscoliotic and deafness type en Synonym Active Case sensitive SNOMED CT core
3322319012 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness en Synonym Active Case sensitive SNOMED CT core
3322320018 Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type en Synonym Active Case sensitive SNOMED CT core
4591661018 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Musculoskeletal structure of spine true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Skin structure false Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process Pathological developmental process true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Bone structure false Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process Pathological developmental process true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital anomaly of vertebral region of back false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process Pathological developmental process true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Lateral abnormal curvature true Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Skin structure true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Bone structure true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Hereditary disorder of the integument false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Inherited disorder of connective tissue false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital skeletal dysplasia false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital deformity false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Connective tissue structure true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Dysplasia true Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Dysplasia true Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital deformity of spine false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process Pathological developmental process true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Structure of auditory system true Inferred relationship Some 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Ehlers-Danlos syndrome kyphoscoliotic type true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Has interpretation Impaired true Inferred relationship Some 6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Musculoskeletal structure of spine true Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Anteroposterior abnormal curvature true Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process Pathological developmental process true Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Sensorineural hearing loss true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital hearing disorder false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Hearing loss associated with syndrome true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Auditory system hereditary disorder true Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Ehlers-Danlos syndrome false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital kyphoscoliosis false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Ear structure false Inferred relationship Some 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Interprets Hearing true Inferred relationship Some 6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Interprets Functional observable false Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Some 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital false Inferred relationship Some 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Some 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital false Inferred relationship Some 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Lateral abnormal curvature false Inferred relationship Some 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital false Inferred relationship Some 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Musculoskeletal structure of spine false Inferred relationship Some 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Skin structure false Inferred relationship Some 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Bone structure false Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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