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720412009: Acropectoral syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3320670018 Acropectoral syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3320671019 Acropectoral syndrome en Synonym Active Case insensitive SNOMED CT core
3320672014 Acro-pectoral syndrome en Synonym Active Case insensitive SNOMED CT core
3320673016 Syndactyly with preaxial polydactyly and sternal deformity syndrome en Synonym Active Case insensitive SNOMED CT core
3320674010 Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acropectoral syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Acropectoral syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Acropectoral syndrome Finding site Digit structure true Inferred relationship Some 1
Acropectoral syndrome Occurrence Congenital true Inferred relationship Some 1
Acropectoral syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Acropectoral syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 1
Acropectoral syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Acropectoral syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Acropectoral syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Acropectoral syndrome Is a Congenital malformation of sternum true Inferred relationship Some
Acropectoral syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Acropectoral syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acropectoral syndrome Is a Syndactyly true Inferred relationship Some
Acropectoral syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Acropectoral syndrome Occurrence Congenital true Inferred relationship Some 2
Acropectoral syndrome Finding site Digit structure false Inferred relationship Some 2
Acropectoral syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Acropectoral syndrome Occurrence Congenital false Inferred relationship Some 3
Acropectoral syndrome Finding site Bone structure of sternum false Inferred relationship Some 3
Acropectoral syndrome Finding site Bone structure of sternum true Inferred relationship Some 2

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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