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720757001: syndrome de dysplasie cranio-fronto-nasale-anomalie de Poland (trouble)


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
756061000241113 syndrome de dysplasie cranio-fronto-nasale-anomalie de Poland (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
929251000172110 syndrome de Webster-Deming fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) survenue (attribut) congénital 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) morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) muscle grand pectoral (structure corporelle) true Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) Congenital premature fusion true Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull true Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) Acrocephalosyndactyly false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) syndrome de craniosynostose (trouble) true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) Frontonasal dysplasia sequence true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 2
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) Congenital premature fusion false Inferred relationship Some 6
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) Joint structure of suture of skull false Inferred relationship Some 6
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) Imperfect fusion of skull false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) Poland anomaly true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) Dysostosis of bone of skull false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) Congenital anomaly of bone and joint true Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) est un(e) (attribut) Cranial suture finding false Inferred relationship Some
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 5
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) muscle grand pectoral (structure corporelle) false Inferred relationship Some 4
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 7
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) localisation d'une constatation (attribut) crâne (structure corporelle) false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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