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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) Is a Congenital anomaly of face bones true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Craniofacial dyssynostosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Craniofacial dyssynostosis syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 3
Craniofacial dyssynostosis syndrome (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 3
Craniofacial dyssynostosis syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Craniofacial dyssynostosis syndrome (disorder) Finding site Bone structure of face false Inferred relationship Some 4
Craniofacial dyssynostosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniofacial dyssynostosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Craniofacial dyssynostosis syndrome (disorder) Finding site Bone structure of face true Inferred relationship Some 2
Craniofacial dyssynostosis syndrome (disorder) Finding site Bone structure of cranium 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Craniofacial dyssynostosis syndrome (disorder) Is a Disorder of skull (disorder) true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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