FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

702432006: syndroom van hernia diaphragmatica, afwijkend aangezicht en distale extremiteitafwijkingen (aandoening)


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
6620491000146118 Fryns-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6620501000146111 syndroom van Fryns nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6620621000146119 FS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748381000146118 syndroom van hernia diaphragmatica, afwijkend aangezicht en distale extremiteitafwijkingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748391000146116 syndroom van hernia diaphragmatica, afwijkend aangezicht en distale extremiteitafwijkingen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748401000146118 syndroom van middenrifbreuk, abnormaal aangezicht en anomalieën van vingers en tenen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


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 gebrekkige ontwikkeling (afwijkende morfologie) 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 (morphologic abnormality) 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 Structure of organ within abdominopelvic cavity (body structure) 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 Abdomen false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Intra-abdominopelvic structure true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Hereditary myopathy (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