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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
5402510016 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402511017 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterised by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5402510016 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402511017 A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterised by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3438751001000118 Kyphoskoliotisches Ehlers-Danlos-Syndrom durch FKBP22-Defizienz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912361000172117 syndrome d'Ehlers-Danlos type cyphoscoliotique avec surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001691000172115 EDS (Ehlers-Danlos syndrome) type cyphoscoliotique avec surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912361000172117 syndrome d'Ehlers-Danlos type cyphoscoliotique avec surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001691000172115 EDS (Ehlers-Danlos syndrome) type cyphoscoliotique avec surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438751001000118 Kyphoskoliotisches Ehlers-Danlos-Syndrom durch FKBP22-Defizienz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Ehlers-Danlos syndrome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital kyphoscoliosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Lateral abnormal curvature false Inferred relationship Existential restriction modifier (core metadata concept) 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Musculoskeletal structure of spine false Inferred relationship Existential restriction modifier (core metadata concept) 10
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital anomaly of vertebral region of back (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Lateral abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Skeletal dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a deformità congenita della colonna vertebrale false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a Ehlers-Danlos syndrome kyphoscoliotic type true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology Anteroposterior abnormal curvature true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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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