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\Orofaciodigital syndrome type 10

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Orofaciodigital syndrome type 10

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

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

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

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital 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\Orofaciodigital syndrome type 10

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

\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 10
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital 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\Orofaciodigital syndrome type 10

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital 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\Orofaciodigital 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\Orofaciodigital syndrome type 10
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 10

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Orofaciodigital syndrome type 10
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Orofaciodigital syndrome type 10
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Orofaciodigital 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\Orofaciodigital syndrome type 10
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 10
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 10

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

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330478011 Orofaciodigital syndrome type 10 en Synonym Active Case insensitive SNOMED CT core

3330479015 Figuera syndrome en Synonym Active Case sensitive SNOMED CT core

3330481018 Orofaciodigital syndrome with fibular aplasia en Synonym Active Case insensitive SNOMED CT core

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

3330706013 Oro-facial digital syndrome type 10 en Synonym Active Case insensitive SNOMED CT core

3330707016 Syndrome with characteristics of facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330478011	Orofaciodigital syndrome type 10	en	Synonym	Active	Case insensitive	SNOMED CT core
3330479015	Figuera syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330481018	Orofaciodigital syndrome with fibular aplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3330705012	Oro-facial digital syndrome type 10 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330706013	Oro-facial digital syndrome type 10	en	Synonym	Active	Case insensitive	SNOMED CT core
3330707016	Syndrome with characteristics of facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.	en	Definition	Active	Case sensitive	SNOMED CT core