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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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Cleft palate with cleft lip true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Iris structure false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Lip structure false Inferred relationship Some 5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Coloboma of iris false Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Congenital coloboma of iris true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Lip structure true Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Iris structure true Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Lip structure false Inferred relationship Some 6
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Finding site Iris structure false Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
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) Associated morphology 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) Is a 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) Finding site Bone structure of head false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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