FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

718099006: Enlarged parietal foramina (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3311160013 Enlarged parietal foramina en Synonym Active Case insensitive SNOMED CT core
3311161012 Catlin marks en Synonym Active Case insensitive SNOMED CT core
3311162017 Hereditary cranium bifidum en Synonym Active Case insensitive SNOMED CT core
3311163010 Symmetric parietal foramina en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start