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1172705006: Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4635488014 Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635490010 Lethal hydranencephaly, diaphragmatic hernia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399410017 Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399411018 Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterised by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635488014 Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635490010 Lethal hydranencephaly, diaphragmatic hernia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635489018 A rare genetic lethal multiple congenital anomalies syndrome with characteristics of hydranencephaly and diaphragmatic hernia along with macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399410017 Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399411018 Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterised by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3392851001000112 Letale Hydranenzephalie-Zwerchfellhernie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6348221000241110 syndrome létal d'hydranencéphalie et hernie diaphragmatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6348221000241110 syndrome létal d'hydranencéphalie et hernie diaphragmatique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392851001000112 Letale Hydranenzephalie-Zwerchfellhernie-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
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a Congenital diaphragmatic hernia true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a Combined malformation of central nervous system and skeletal muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a Hydranencephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 5
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 5
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Finding site Diaphragm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (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
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Finding site Cerebral hemisphere structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Finding site Intra-abdominopelvic structure true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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