FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

719800009: Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (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
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
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) survenue (attribut) congénital true Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true 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) morphologie associée (attribut) Dystrophy (morphologic abnormality) 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) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) survenue (attribut) congénital 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) survenue (attribut) congénital true Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Deafness with onychodystrophy syndrome true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 3
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Skin appendage structure false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 6
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) onychodystrophie false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with nail defect false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Congenital osteodystrophy true Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 6
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 7
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 8
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 9
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 9
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 10
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 10
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) Intellectual disability false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start