722055008: Oculopalatocerebral syndrome (disorder)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
\Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Oculopalatocerebral syndrome (disorder)

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Oculopalatocerebral syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Oculopalatocerebral syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Oculopalatocerebral syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculopalatocerebral syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Embryological remnant\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oculopalatocerebral syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Oculopalatocerebral syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculopalatocerebral syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Embryological remnant\Persistent hyperplastic primary vitreous\Oculopalatocerebral syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oculopalatocerebral syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Oculopalatocerebral syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330404012 Oculopalatocerebral syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330405013 Oculopalatocerebral syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330406014 Oculo-palato-cerebral syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330407017 Oculo-palato-cerebral dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402797015 Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402798013 Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. 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
Oculopalatocerebral syndrome (disorder)	Is a	Microcephalus	false	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Congenital anomaly of palate	true	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Persistent hyperplastic primary vitreous	true	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Oculopalatocerebral syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Oculopalatocerebral syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Oculopalatocerebral syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Oculopalatocerebral syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	5
Oculopalatocerebral syndrome (disorder)	Associated morphology	Persistent embryonic structure	false	Inferred relationship	Some	3
Oculopalatocerebral syndrome (disorder)	Finding site	Structure of primary vitreous	false	Inferred relationship	Some	3
Oculopalatocerebral syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	4
Oculopalatocerebral syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	4
Oculopalatocerebral syndrome (disorder)	Finding site	Palatal structure	true	Inferred relationship	Some	3
Oculopalatocerebral syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oculopalatocerebral syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculopalatocerebral syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculopalatocerebral syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Oculopalatocerebral syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Oculopalatocerebral syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oculopalatocerebral syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculopalatocerebral syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Oculopalatocerebral syndrome (disorder)	Finding site	Structure of primary vitreous	true	Inferred relationship	Some	2
Oculopalatocerebral syndrome (disorder)	Associated morphology	Persistent embryonic structure	true	Inferred relationship	Some	2
Oculopalatocerebral syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Oculopalatocerebral syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Oculopalatocerebral syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Oculopalatocerebral syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Oculopalatocerebral syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Oculopalatocerebral syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Oculopalatocerebral syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Oculopalatocerebral syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

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
3330404012	Oculopalatocerebral syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330405013	Oculopalatocerebral syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330406014	Oculo-palato-cerebral syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330407017	Oculo-palato-cerebral dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402797015	Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402798013	Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core