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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) Congenital macrocephaly (disorder) true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) hernie diaphragmatique congénitale true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) Combined malformation of central nervous system and skeletal muscle (disorder) true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) hydranencéphalie true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) Genetic disease true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) interprète (attribut) Head circumference true Inferred relationship Some 5
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 5
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) localisation d'une constatation (attribut) diaphragme (structure corporelle) true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (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
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) localisation d'une constatation (attribut) Cerebral hemisphere structure (body structure) true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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