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720818003: craniosynostose type Philadelphie (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
3322174015 Craniosynostosis Philadelphia type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322175019 Craniosynostosis Philadelphia type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
756541000241116 craniosynostose type Philadelphie (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
936651000172119 craniosynostose type Philadelphie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3322176018 A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. 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
Craniosynostosis Philadelphia type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis Philadelphia type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 1
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Disorder of skull (disorder) false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) syndrome de craniosynostose (trouble) true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Syndactyly (disorder) true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Congenital anomaly of bone and joint true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Congenital abnormality of skull shape true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Craniosynostosis Philadelphia type (disorder) morphologie associée (attribut) Abnormal shape (morphologic abnormality) true Inferred relationship Some 1
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Acrocephalosyndactyly false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 4
Craniosynostosis Philadelphia type (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Craniosynostosis Philadelphia type (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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