717338006: Koolen De Vries syndrome (disorder)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Koolen De Vries syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Koolen De Vries syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Koolen De Vries syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Koolen De Vries syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Koolen De Vries syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Koolen De Vries syndrome (disorder)
\Disease\Developmental disorder\Developmental delay\Koolen De Vries 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

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

3309103016 Koolen De Vries syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401571014 A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401572019 A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

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Active

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Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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 (core metadata concept)	SNOMED CT core
3309103016	Koolen De Vries syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401571014	A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401572019	A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core