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718099006: Enlarged parietal foramina (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3311159015 Enlarged parietal foramina (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311160013 Enlarged parietal foramina en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311161012 Catlin marks en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311162017 Hereditary cranium bifidum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311163010 Symmetric parietal foramina en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311165015 A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
882111000172113 crâne bifide héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
893941000172115 lacunes pariétales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Enlarged parietal foramina (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Enlarged parietal foramina (disorder) Is a Congenital anomaly of parietal bone true Inferred relationship Some
Enlarged parietal foramina (disorder) Is a Defect of skull ossification true Inferred relationship Some
Enlarged parietal foramina (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Enlarged parietal foramina (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Enlarged parietal foramina (disorder) Has definitional manifestation Functional bone disorder false Inferred relationship Some
Enlarged parietal foramina (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Enlarged parietal foramina (disorder) Occurrence Congenital false Inferred relationship Some 2
Enlarged parietal foramina (disorder) Finding site Structure of parietal foramen false Inferred relationship Some 2
Enlarged parietal foramina (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Enlarged parietal foramina (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Enlarged parietal foramina (disorder) Finding site Structure of parietal foramen true Inferred relationship Some 1
Enlarged parietal foramina (disorder) Occurrence Congenital true Inferred relationship Some 1
Enlarged parietal foramina (disorder) Interprets Bone formation true Inferred relationship Some 2
Enlarged parietal foramina (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Enlarged parietal foramina (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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