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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
2995571013 Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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
3452961001000116 Fryns-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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 Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Disorder of diaphragm false Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Diaphragm structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Lung structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Congenital hypoplasia of lung true Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Diaphragm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Congenital diaphragmatic hernia true Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Organ within abdominopelvic cavity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Congenital anomaly of abdomen false Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Structure of abdominopelvic cavity and/or content of abdominopelvic cavity and/or anterior abdominal wall (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Finding site Intra-abdominopelvic structure true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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