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718099006: lacunes pariétales (trouble)


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
751981000241110 lacunes pariétales (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
882111000172113 crâne bifide héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
893941000172115 lacunes pariétales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Enlarged parietal foramina (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Enlarged parietal foramina (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Enlarged parietal foramina (disorder) localisation d'une constatation (attribut) Structure of parietal foramen true Inferred relationship Some 1
Enlarged parietal foramina (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Enlarged parietal foramina (disorder) interprète (attribut) Bone formation, function (observable entity) true Inferred relationship Some 2
Enlarged parietal foramina (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 2
Enlarged parietal foramina (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) Congenital anomaly of parietal bone true Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) Defect of skull ossification true Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Enlarged parietal foramina (disorder) est défini par la manifestation de (attribut) Functional bone disorder false Inferred relationship Some
Enlarged parietal foramina (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Enlarged parietal foramina (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Enlarged parietal foramina (disorder) localisation d'une constatation (attribut) Structure of parietal foramen false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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