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720412009: syndrome acropectoral (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
3320670018 Acropectoral syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320671019 Acropectoral syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320672014 Acro-pectoral syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320673016 Syndactyly with preaxial polydactyly and sternal deformity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755301000241115 syndrome acropectoral (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
875121000172116 syndrome ACRP (acropectoral) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
893711000172117 syndrome acropectoral fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acropectoral syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acropectoral syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Acropectoral syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 1
Acropectoral syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Acropectoral syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acropectoral syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
Acropectoral syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) Congenital malformation of sternum true Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) Syndactyly (disorder) true Inferred relationship Some
Acropectoral syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 2
Acropectoral syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Acropectoral syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 2
Acropectoral syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Acropectoral syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Acropectoral syndrome (disorder) localisation d'une constatation (attribut) sternum (structure corporelle) false Inferred relationship Some 3
Acropectoral syndrome (disorder) localisation d'une constatation (attribut) sternum (structure corporelle) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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