FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1172705006: Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
4635490010 Lethal hydranencephaly, diaphragmatic hernia syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a Congenital macrocephaly true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a Congenital diaphragmatic hernia true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a Combined malformation of central nervous system and skeletal muscle true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a Hydranencephaly true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a Genetic disease true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome Interprets Head circumference true Inferred relationship Some 5
Lethal hydranencephaly, diaphragmatic hernia syndrome Has interpretation Above reference range true Inferred relationship Some 5
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence Congenital true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Finding site Diaphragm structure true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Associated morphology Hernial opening true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence Congenital true Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome Finding site Structure of abdomen false Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome Associated morphology Hernia true Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence Congenital true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Finding site Cerebral hemisphere structure true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Associated morphology Absence true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence Congenital true Inferred relationship Some 4
Lethal hydranencephaly, diaphragmatic hernia syndrome Finding site Structure of head true Inferred relationship Some 4
Lethal hydranencephaly, diaphragmatic hernia syndrome Associated morphology Enlargement true Inferred relationship Some 4
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Lethal hydranencephaly, diaphragmatic hernia syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start