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720757001: Craniofrontonasal dysplasia with Poland anomaly 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 Reference Sets
3322021011 Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3322022016 Craniofrontonasal dysplasia with Poland anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3322023014 Webster Deming syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3893991000052114 syndrom med kraniofrontonasal dysplasi och Polands anomali sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


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