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722463001: syndrome de colobome maculaire-fente palatine-hallux valgus (trouble)


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
3332241017 Macular coloboma, cleft palate, hallux valgus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332242012 Macular coloboma, cleft palate, hallux valgus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
758801000241115 syndrome de colobome maculaire-fente palatine-hallux valgus (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
996601000172112 syndrome de colobome maculaire-fente palatine-hallux valgus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3332243019 Syndrome with the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. 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
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) localisation d'une constatation (attribut) articulation métatarsophalangienne du gros orteil (structure corporelle) true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) morphologie associée (attribut) Valgus deformity (morphologic abnormality) true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Congenital anomaly of bone and joint false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Congenital anomaly of macula (disorder) false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) hallux valgus congénital true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Coloboma of eye false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) interprète (attribut) Form of toes false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) morphologie associée (attribut) Congenital valgus deformity false Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) localisation d'une constatation (attribut) articulation métatarsophalangienne du gros orteil (structure corporelle) false Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 6
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) localisation d'une constatation (attribut) Macula lutea structure false Inferred relationship Some 6
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) localisation d'une constatation (attribut) Macula lutea structure true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) Congenital coloboma of macula lutea true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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