FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) structure d'un poumon true Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) 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) est un(e) (attribut) 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 true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) diaphragme (structure corporelle) true Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) true Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) hernie diaphragmatique congénitale true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) Structure of organ within abdominopelvic cavity (body structure) false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) Congenital anomaly of abdomen true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) structure de la cavité abdominopelvienne et/ou contenu de la cavité abdominopelvienne et/ou paroi abdominale antérieure (structure corporelle) true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) Disorder of diaphragm (disorder) false Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) diaphragme (structure corporelle) false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 2

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