FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
3322021011 Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322022016 Craniofrontonasal dysplasia with Poland anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322023014 Webster Deming syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402473011 A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402474017 A polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322021011 Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322022016 Craniofrontonasal dysplasia with Poland anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322023014 Webster Deming syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402473011 A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402474017 A polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435861001000117 Kranio-fronto-nasale Dysplasie - Poland-Anomalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
902551000172114 syndrome de dysplasie cranio-fronto-nasale-anomalie de Poland fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929251000172110 syndrome de Webster-Deming fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
902551000172114 syndrome de dysplasie cranio-fronto-nasale-anomalie de Poland fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
929251000172110 syndrome de Webster-Deming fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435861001000117 Kranio-fronto-nasale Dysplasie - Poland-Anomalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start