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719042007: Uveal coloboma with cleft lip and palate and intellectual disability 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
3314770015 Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314771016 Uveal coloboma with cleft lip and palate and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314772011 This syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314773018 This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. 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
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Cleft palate with cleft lip true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) iris false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Coloboma of iris false Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) est un(e) (attribut) Congenital coloboma of iris (disorder) true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) true Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) iris true Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) iris false Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and 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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