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720818003: Craniosynostosis Philadelphia type (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
3322174015 Craniosynostosis Philadelphia type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322175019 Craniosynostosis Philadelphia type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322176018 A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3919551000052117 kraniosynostos, typ Philadelphia sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis Philadelphia type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Acrocephalosyndactyly false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) Occurrence Congenital true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 4
Craniosynostosis Philadelphia type (disorder) Occurrence Congenital false Inferred relationship Some 4
Craniosynostosis Philadelphia type (disorder) Finding site Digit structure false Inferred relationship Some 4
Craniosynostosis Philadelphia type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis Philadelphia type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Craniosynostosis Philadelphia type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) Finding site Digit structure true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) Occurrence Congenital true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) Associated morphology Congenital abnormal fusion true Inferred relationship Some 2
Craniosynostosis Philadelphia type (disorder) Finding site Bone structure of cranium true Inferred relationship Some 1
Craniosynostosis Philadelphia type (disorder) Is a Disorder of skull (disorder) false Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Syndactyly (disorder) true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a Congenital abnormality of skull shape true Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Occurrence Congenital true Inferred relationship Some 1
Craniosynostosis Philadelphia type (disorder) Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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