702432006: Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Fryns syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Abdominal hernia\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Abdominal hernia\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Diaphragmatic finding\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Diaphragmatic finding\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Abdominal hernia\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Fryns syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\Lesion of skeletal muscle\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome
\Muscle finding\Diaphragmatic finding\Disorder of diaphragm\Congenital anomaly of diaphragm\Congenital diaphragmatic hernia\Fryns syndrome
\Muscle finding\Diaphragmatic finding\Disorder of diaphragm\Diaphragmatic hernia\Congenital diaphragmatic hernia\Fryns syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

2995610010 Fryns syndrome en Synonym Active Case sensitive SNOMED CT core

2995721013 Diaphragmatic hernia, abnormal face and distal limb anomalies en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fryns syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Fryns syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Fryns syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Fryns syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Fryns syndrome	Finding site	Lung structure	true	Inferred relationship	Some	4
Fryns syndrome	Finding site	Limb structure	true	Inferred relationship	Some	5
Fryns syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	5
Fryns syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	4
Fryns syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Fryns syndrome	Is a	Congenital pulmonary hypoplasia	true	Inferred relationship	Some
Fryns syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Fryns syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Fryns syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Fryns syndrome	Associated morphology	Hernia	true	Inferred relationship	Some	2
Fryns syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Fryns syndrome	Finding site	Diaphragm structure	true	Inferred relationship	Some	3
Fryns syndrome	Associated morphology	Hernial opening	true	Inferred relationship	Some	3
Fryns syndrome	Is a	Congenital diaphragmatic hernia	true	Inferred relationship	Some
Fryns syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fryns syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Fryns syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Fryns syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Fryns syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fryns syndrome	Finding site	Structure of organ within abdominopelvic cavity	false	Inferred relationship	Some	2
Fryns syndrome	Is a	Congenital anomaly of abdomen	false	Inferred relationship	Some
Fryns syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Fryns syndrome	Finding site	Structure of abdomen	false	Inferred relationship	Some	2
Fryns syndrome	Finding site	Intra-abdominopelvic structure	true	Inferred relationship	Some	2
Fryns syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
Fryns syndrome	Is a	Disorder of diaphragm	false	Inferred relationship	Some
Fryns syndrome	Finding site	Diaphragm structure	false	Inferred relationship	Some	2
Fryns syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Fryns syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Fryns syndrome	Finding site	Face structure	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microphthalmos due to Fryns syndrome	Due to	True	Fryns syndrome	Inferred relationship	Some	2

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995571013	Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2995610010	Fryns syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2995721013	Diaphragmatic hernia, abnormal face and distal limb anomalies	en	Synonym	Active	Case insensitive	SNOMED CT core