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719800009: syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke beperking (aandoening)


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
3321966019 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321967011 DOORS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322719010 Autosomal recessive deafness onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322824019 DOOR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322825018 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6719751000146110 syndroom van doofheid, onychodystrofie, osteodystrofie en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6835311000146118 DOOR-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6938841000146111 syndroom van autosomaal recessieve doofheid en dystrophia unguium nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494911000146116 syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719161000146113 syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7857961000146110 syndroom van doofheid, onychodystrofie, osteodystrofie en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322826017 A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. 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
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Sensorineural hearing loss false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Dystrophia unguium false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Hearing loss associated with syndrome false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Ectodermal dysplasia with nail defect false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Auditory system hereditary disorder false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Congenital osteodystrophy true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Ear structure false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Interprets Hearing true Inferred relationship Some 6
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Interprets observatie betreffende functioneren false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Bone structure false Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Some 9
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site structuur van unguis (lichaamsstructuur) false Inferred relationship Some 9
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 10
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Skin structure false Inferred relationship Some 10
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Intellectual disability false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 3
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Bone structure true Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a Deafness with onychodystrophy syndrome true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 3
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Ear structure false Inferred relationship Some 5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Skin appendage structure false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 6
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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