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720757001: Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3322021011 Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3322022016 Craniofrontonasal dysplasia with Poland anomaly syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3322023014 Webster Deming syndrome en Synonym Active Case sensitive SNOMED CT core
3322024015 A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence Congenital true Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence Congenital true Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Pectoralis major muscle structure true Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence Congenital true Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital premature fusion true Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Joint structure of suture of skull true Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Digit structure true Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Dysplasia true Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Acrocephalosyndactyly false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Craniosynostosis syndrome true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Frontonasal dysplasia sequence true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Face structure true Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Absence true Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Bone structure of cranium true Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 6
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Joint structure of suture of skull false Inferred relationship Some 6
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Imperfect fusion of skull false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Poland anomaly true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Dysostosis of bone of skull false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Congenital anomaly of bone and joint true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Is a Cranial suture finding false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence Congenital true Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence Congenital true Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence Congenital false Inferred relationship Some 6
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence Congenital false Inferred relationship Some 7
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Digit structure false Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital absence false Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Pectoralis major muscle structure false Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 7
Craniofrontonasal dysplasia with Poland anomaly syndrome Finding site Bone structure of cranium false Inferred relationship Some 7

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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