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

726704006: syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3451906015 Cataract, congenital heart disease, neural tube defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451907012 Cataract, congenital heart disease, neural tube defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762311000241116 syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
892031000172117 syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3451908019 A multiple congenital anomaly syndrome with characteristics of sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures and joint limitation are also reported. 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
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 3
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) Neural tube structure true Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) Congenital cataract true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) anomalie du tube neural true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) Congenital cataract false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 9
Cataract, congenital heart disease, neural tube defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) Neural tube structure false Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start