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716170005: Deafness with cataract and skeletal anomaly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304956016 Deafness with cataract and skeletal anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304957013 Deafness with cataract and skeletal anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304958015 Nathalie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304959011 Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3866801000052115 Nathalies syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Finding site Ear structure false Inferred relationship Some 3
Deafness with cataract and skeletal anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Deafness with cataract and skeletal anomaly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Deafness with cataract and skeletal anomaly syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Deafness with cataract and skeletal anomaly syndrome (disorder) Finding site Bone structure false Inferred relationship Some 3
Deafness with cataract and skeletal anomaly syndrome (disorder) Associated morphology medfödd katarakt false Inferred relationship Some 4
Deafness with cataract and skeletal anomaly syndrome (disorder) Finding site Lens clear false Inferred relationship Some 4
Deafness with cataract and skeletal anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Deafness with cataract and skeletal anomaly syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Deafness with cataract and skeletal anomaly syndrome (disorder) Finding site Bone structure true Inferred relationship Some 2
Deafness with cataract and skeletal anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Deafness with cataract and skeletal anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Deafness with cataract and skeletal anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Deafness with cataract and skeletal anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Deafness with cataract and skeletal anomaly syndrome (disorder) Associated morphology katarakt false Inferred relationship Some 1
Deafness with cataract and skeletal anomaly syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1
Deafness with cataract and skeletal anomaly syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Interprets Hearing true Inferred relationship Some 4
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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