716198008: Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice 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\Game Friedman Paradice syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome

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

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\Game Friedman Paradice syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome

\Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Respiratory finding\Lower respiratory tract finding\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Respiratory finding\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Game Friedman Paradice syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\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\Game Friedman Paradice syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Game Friedman Paradice syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Game Friedman Paradice syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital pulmonary hypoplasia\Game Friedman Paradice syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305059018 Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3305060011 Growth delay with hydrocephalus and lung hypoplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3305061010 Game Friedman Paradice syndrome en Synonym Active Case sensitive SNOMED CT core

3305062015 A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Game Friedman Paradice syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Game Friedman Paradice syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Game Friedman Paradice syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Game Friedman Paradice syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Game Friedman Paradice syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	1
Game Friedman Paradice syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Game Friedman Paradice syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Game Friedman Paradice syndrome	Is a	Developmental disorder	false	Inferred relationship	Some
Game Friedman Paradice syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Game Friedman Paradice syndrome	Is a	Congenital pulmonary hypoplasia	true	Inferred relationship	Some
Game Friedman Paradice syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Game Friedman Paradice syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Game Friedman Paradice syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Game Friedman Paradice syndrome	Finding site	Lung structure	true	Inferred relationship	Some	2
Game Friedman Paradice syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	3
Game Friedman Paradice syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Game Friedman Paradice syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305059018	Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305060011	Growth delay with hydrocephalus and lung hypoplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305061010	Game Friedman Paradice syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305062015	A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities.	en	Definition	Active	Case sensitive	SNOMED CT core