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

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Lung finding\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

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

\Finding of brain\Disorder of brain (disorder)\...

\Hydrocephalus\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

\Respiratory finding\Lower respiratory tract finding\Lung finding\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Respiratory finding\Lower respiratory tract finding\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Congenital malformation of the respiratory system (disorder)\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Congenital malformation of the respiratory system (disorder)\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation of the respiratory system (disorder)\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation of the respiratory system (disorder)\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Congenital hypoplasia of lung\Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3305060011 Growth delay with hydrocephalus and lung hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305061010 Game Friedman Paradice syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3864151000052119 Game-Friedman-Paradices syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Is a	Developmental disorder	false	Inferred relationship	Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Is a	Congenital hypoplasia of lung	true	Inferred relationship	Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Finding site	Lung structure	true	Inferred relationship	Some	2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Associated morphology	kongenital dilatation	false	Inferred relationship	Some	3
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Finding site	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	3
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Associated morphology	kongenital dilatation	false	Inferred relationship	Some	1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Finding site	Brain cerebrospinal fluid pathway	true	Inferred relationship	Some	1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3305059018	Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305060011	Growth delay with hydrocephalus and lung hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305061010	Game Friedman Paradice syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3864151000052119	Game-Friedman-Paradices syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)