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722463001: Macular coloboma, cleft palate, hallux valgus syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3332242012 Macular coloboma, cleft palate, hallux valgus syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Macular coloboma, cleft palate, hallux valgus syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence Congenital true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome Finding site First metatarsophalangeal joint structure true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome Associated morphology Valgus deformity true Inferred relationship Some 3
Macular coloboma, cleft palate, hallux valgus syndrome Is a Congenital anomaly of bone and joint false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Finding site Bone structure of head false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Congenital anomaly of macula false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Congenital hallux valgus true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Cleft palate true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Coloboma of eye false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Interprets Form of toes false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence Congenital false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Associated morphology Congenital valgus deformity false Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence Congenital false Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome Finding site First metatarsophalangeal joint structure false Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 6
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence Congenital false Inferred relationship Some 6
Macular coloboma, cleft palate, hallux valgus syndrome Finding site Palatal structure false Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Finding site Macula lutea structure false Inferred relationship Some 6
Macular coloboma, cleft palate, hallux valgus syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence Congenital true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome Finding site Palatal structure true Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence Congenital true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome Finding site Macula lutea structure true Inferred relationship Some 2
Macular coloboma, cleft palate, hallux valgus syndrome Is a Congenital coloboma of macula lutea true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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