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720755009: Craniofacial dyssynostosis syndrome (disorder)


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
3322014011 Craniofacial dyssynostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322015012 Craniofacial dyssynostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322016013 A rare cranial malformation syndrome with characteristics of premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour and dysmorphic facial features. Short stature, developmental delay, epilepsy and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. 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
Craniofacial dyssynostosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniofacial dyssynostosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Craniofacial dyssynostosis syndrome (disorder) localisation d'une constatation (attribut) os de la face (structure corporelle) true Inferred relationship Some 2
Craniofacial dyssynostosis syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 1
Craniofacial dyssynostosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Craniofacial dyssynostosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniofacial dyssynostosis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Disorder of skull (disorder) true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of face bones true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) syndrome de craniosynostose (trouble) true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of bone and joint true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Craniofacial dyssynostosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Craniofacial dyssynostosis syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 3
Craniofacial dyssynostosis syndrome (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull true Inferred relationship Some 3
Craniofacial dyssynostosis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Craniofacial dyssynostosis syndrome (disorder) localisation d'une constatation (attribut) os de la face (structure corporelle) false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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