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732957009: Brachydactyly and preaxial hallux varus syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498444017 Brachydactyly and preaxial hallux varus syndrome en Synonym Active Case insensitive SNOMED CT core
3498445016 Brachydactyly and preaxial hallux varus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3499925014 The association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. The syndrome has been described in eight affected individuals from four successive generations of one family. Intellectual deficit was observed in all reported individuals. Transmission appears to be autosomal dominant. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachydactyly and preaxial hallux varus syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome Occurrence Congenital true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome Finding site Joint of hallux true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome Associated morphology Varus deformity true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Interprets Intellectual ability true Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome Has interpretation Impaired true Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
Brachydactyly and preaxial hallux varus syndrome Has interpretation Impaired true Inferred relationship Some 4
Brachydactyly and preaxial hallux varus syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a Brachydactyly true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a Congenital hallux varus true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a Intellectual disability false Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Associated morphology Abnormally short growth true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome Occurrence Congenital true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome Finding site Entire digit true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome Associated morphology Congenital varus deformity false Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome Occurrence Congenital false Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome Finding site Joint of hallux false Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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