205802006: Oculo-palato-digital syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

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

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

\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\Oculo-palato-digital syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\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\X-linked hereditary disease\Oculo-palato-digital syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Oculo-palato-digital syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Oculo-palato-digital syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\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\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oculo-palato-digital syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Oculo-palato-digital syndrome
\Disease\Developmental 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\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculo-palato-digital syndrome
\Disease\Developmental 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

315595018 Oculo-palato-digital syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

591220013 Oculo-palato-digital syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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
Oculo-palato-digital syndrome	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Oculo-palato-digital syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Oculo-palato-digital syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier
Oculo-palato-digital syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Oculo-palato-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oculo-palato-digital syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	1
Oculo-palato-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Oculo-palato-digital syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Oculo-palato-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oculo-palato-digital syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	2
Oculo-palato-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oculo-palato-digital syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Oculo-palato-digital syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	2
Oculo-palato-digital syndrome	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier
Oculo-palato-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Oculo-palato-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Oculo-palato-digital 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
315595018	Oculo-palato-digital syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
591220013	Oculo-palato-digital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module