722075004: Oro-facial digital syndrome type 10 (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\Digestive system finding\Finding of mouth region\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Oro-facial digital syndrome type 10

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

\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of mouth region\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\Disorder of head\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Oro-facial digital syndrome type 10
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Oro-facial digital syndrome type 10
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Oro-facial digital syndrome type 10

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

\Disease\Genetic disease\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of head\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 10

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

Descriptions:

Id Description Lang Type Status Case? Module

3330478011 Orofaciodigital syndrome type 10 en Synonym Active Entire term case insensitive SNOMED CT core module

3330479015 Figuera syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3330481018 Orofaciodigital syndrome with fibular aplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3330705012 Oro-facial digital syndrome type 10 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3330706013 Oro-facial digital syndrome type 10 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oro-facial digital syndrome type 10	Is a	Oral-facial-digital syndrome	true	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 10	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 10	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Oro-facial digital syndrome type 10	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Oro-facial digital syndrome type 10	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Oro-facial digital syndrome type 10	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	5
Oro-facial digital syndrome type 10	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Oro-facial digital syndrome type 10	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	5
Oro-facial digital syndrome type 10	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Oro-facial digital syndrome type 10	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Oro-facial digital syndrome type 10	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Oro-facial digital syndrome type 10	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	4
Oro-facial digital syndrome type 10	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Oro-facial digital syndrome type 10	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	6
Oro-facial digital syndrome type 10	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	7
Oro-facial digital syndrome type 10	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	7
Oro-facial digital syndrome type 10	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	5
Oro-facial digital syndrome type 10	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 10	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oro-facial digital syndrome type 10	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Oro-facial digital syndrome type 10	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oro-facial digital syndrome type 10	Finding site	Structure of region of internal part of mouth	true	Inferred relationship	Existential restriction modifier	1
Oro-facial digital syndrome type 10	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Oro-facial digital syndrome type 10	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Oro-facial digital syndrome type 10	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Oro-facial digital syndrome type 10	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Oro-facial digital syndrome type 10	Finding site	Structure of region of internal part of mouth	false	Inferred relationship	Existential restriction modifier	3
Oro-facial digital syndrome type 10	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Oro-facial digital syndrome type 10	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Oro-facial digital syndrome type 10	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Oro-facial digital syndrome type 10	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Oro-facial digital syndrome type 10	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Oro-facial digital syndrome type 10	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Oro-facial digital syndrome type 10	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Oro-facial digital syndrome type 10	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oro-facial digital syndrome type 10	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Oro-facial digital syndrome type 10	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Oro-facial digital syndrome type 10	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	5
Oro-facial digital syndrome type 10	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Oro-facial digital syndrome type 10	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Oro-facial digital syndrome type 10	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Oro-facial digital syndrome type 10	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

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
3330478011	Orofaciodigital syndrome type 10	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3330479015	Figuera syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3330481018	Orofaciodigital syndrome with fibular aplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3330705012	Oro-facial digital syndrome type 10 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3330706013	Oro-facial digital syndrome type 10	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module