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721085000: Deafness, enamel hypoplasia, nail defect 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
3323406018 Deafness, enamel hypoplasia, nail defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323407010 Deafness, enamel hypoplasia, nail defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323408017 Heimler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323409013 This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323410015 This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. 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
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) Enamel structure false Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 2
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Decreased hearing true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Peroxisome biogenesis disorder true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 5
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) Enamel structure true Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Enamel hypoplasia true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'ongle (trouble) false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 6
Deafness, enamel hypoplasia, nail defect syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 5
Deafness, enamel hypoplasia, nail defect syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) Nail structure false Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 10
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 10
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 7
Deafness, enamel hypoplasia, nail defect syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 9
Deafness, enamel hypoplasia, nail defect syndrome (disorder) localisation d'une constatation (attribut) Enamel structure false Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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