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1217373008: Diaphragmatic hernia, short bowel, asplenia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5036043012 Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036044018 Diaphragmatic hernia, short bowel, asplenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399938019 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399939010 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. 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
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Is a Congenital diaphragmatic hernia true Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Is a Congenital short bowel syndrome (disorder) true Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Is a Genetic disease true Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Is a Congenital absence of spleen true Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Finding site Entire small intestine true Inferred relationship Some 1
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Finding site Diaphragm structure true Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Finding site Abdomen false Inferred relationship Some 3
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 3
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Finding site Splenic structure true Inferred relationship Some 4
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 4
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Finding site Face structure true Inferred relationship Some 5
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Finding site Intra-abdominopelvic structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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