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


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

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 SNOMED CT core module
3322318016 Ehlers-Danlos syndrome kyphoscoliotic and deafness type en Synonym Active Entire term case sensitive SNOMED CT core module
3322319012 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness en Synonym Active Entire term case sensitive SNOMED CT core module
3322320018 Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type en Synonym Active Entire term case sensitive SNOMED CT core module
4591661018 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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