FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

702432006: Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2995571013 Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995610010 Fryns syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995721013 Diaphragmatic hernia, abnormal face and distal limb anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5449001000241114 syndrome de hernie diaphragmatique-dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452961001000116 Fryns-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Disorder of diaphragm (disorder) false Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Diaphragm structure false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Face structure false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Face structure true Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Lung structure true Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Limb structure true Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Hypoplasia true Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Hypoplasia true Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Congenital hypoplasia of lung true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Diaphragm structure true Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Congenital diaphragmatic hernia true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Any organ (viscera) contained within the abdominopelvic cavity. The abdominopelvic viscera includes stomach, small intestine, large intestine, spleen, kidneys, adrenal glands, pancreas, liver and gallbladder and the viscera within the true pelvic cavity including ovaries, uterus, prostate, urinary bladder and anal canal. false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Congenital anomaly of abdomen false Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site This is considered the most commonly used clinical variant of 'abdomen' and relates to the space and content within the abdominopelvic cavity plus the anterior and lateral abdominal wall. The volume is bounded by, but excludes: superiorly the thoracic diaphragm; inferiorly the pelvic diaphragm; and posteriorly the posterior wall of the abdomen proper: The pelvic component consists of the cavity of the true pelvis, which is bounded by, but excludes, the pelvic wall. Anteriorly this volume is bounded and includes the anterior abdominal (including the lateral abdominal wall). false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site This structure comprises the space and content within the boundaries of the abdominopelvic cavity but excludes the walls that define and enclose the space. Previously SNOMED CT used the word 'compartment' to describe structures comprising the cavity and content but FMA has used the same word to include cavity, content and wall. As a consequence, the preferred notation is intra-abdominopelvic structure as this more clearly excludes the 'wall' structures. The intra-abdominopelvic structure is bounded by, but excludes the following 'wall' structures: superiorly the thoracic diaphragm; inferiorly the pelvic diaphragm; anteriorly the anterior abdominal wall (including the lateral abdominal wall); and posteriorly the wall of the abdominal proper segment of trunk. The pelvic component consists of the cavity and content of the true pelvis, which is bounded by the pelvic wall. Note, the structures that form the boundaries are excluded. true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Congenital hypoplasia of limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Microphthalmos due to Fryns syndrome (disorder) Due to True Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Inferred relationship Some 2

This concept is not in any reference sets

Back to Start