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721089006: syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle (trouble)


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
756931000241118 syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
917921000172111 syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation 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) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) 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) est un(e) (attribut) 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) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 5
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Dentin structure true Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Dentinogenesis imperfecta true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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