FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

721089006: syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies 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
3323449017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323450017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6719821000146112 syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies 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)
7495021000146114 syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies 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)
7572841000146119 syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies 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)
7572851000146116 syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies 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)
3323451018 Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. 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
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Dentinogenesis imperfecta true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Ear structure false Inferred relationship Some 3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Hearing true Inferred relationship Some 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets observatie betreffende functioneren false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Face structure true Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 5
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Dentin structure true Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 7
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Congenital hearing loss (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start