205802006: Oculo-palato-digital 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\Oculo-palato-digital syndrome
\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\Oculo-palato-digital syndrome
\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\Oculo-palato-digital syndrome

\Finding of limb structure (finding)\Disorder of limb\...

\Disorder of digit\Congenital anomaly of digit\Oculo-palato-digital syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Oculo-palato-digital syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculo-palato-digital syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Oculo-palato-digital syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oculo-palato-digital syndrome
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Oculo-palato-digital syndrome
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Oculo-palato-digital syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Oculo-palato-digital syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oculo-palato-digital syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculo-palato-digital syndrome	Is a	Multisystem disorder O-P	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculo-palato-digital syndrome	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculo-palato-digital syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculo-palato-digital syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculo-palato-digital syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculo-palato-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculo-palato-digital syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculo-palato-digital syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculo-palato-digital syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculo-palato-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculo-palato-digital syndrome	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculo-palato-digital syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculo-palato-digital syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculo-palato-digital syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculo-palato-digital syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculo-palato-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculo-palato-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculo-palato-digital syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
315595018	Oculo-palato-digital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591220013	Oculo-palato-digital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315595018	Oculo-palato-digital syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
315595018	Oculo-palato-digital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591220013	Oculo-palato-digital syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
591220013	Oculo-palato-digital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
75721000077114	syndrome oculo-palato-digital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
75721000077114	syndrome oculo-palato-digital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module