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717338006: Koolen De Vries syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\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\Koolen De Vries syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Koolen De Vries syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Koolen De Vries syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Koolen De Vries syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Koolen De Vries syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Koolen De Vries syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome
\Disease\Developmental disorder\Developmental delay\Koolen De Vries syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3309102014 Koolen De Vries syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3309103016 Koolen De Vries syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Koolen De Vries syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Koolen De Vries syndrome	Is a	Anomaly of chromosome pair 17	true	Inferred relationship	Existential restriction modifier
Koolen De Vries syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Koolen De Vries syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Koolen De Vries syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Koolen De Vries syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Koolen De Vries syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Koolen De Vries syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier	3
Koolen De Vries syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Koolen De Vries syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Existential restriction modifier	3
Koolen De Vries syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Koolen De Vries syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Koolen De Vries syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Existential restriction modifier	1
Koolen De Vries syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier	1
Koolen De Vries syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Koolen De Vries syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Koolen De Vries syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3309102014	Koolen De Vries syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3309103016	Koolen De Vries syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module