239030004: Orofacial-digital syndrome III (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\Orofacial-digital syndrome III

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III

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

\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofacial-digital syndrome III

\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofacial-digital syndrome III

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III

\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\Orofacial-digital syndrome III
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III

\Disease\Genetic disease\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Orofacial-digital syndrome III
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Orofacial-digital syndrome III
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Orofacial-digital syndrome III
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Orofacial-digital syndrome III
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Orofacial-digital syndrome III
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Orofacial-digital syndrome III
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Developmental disorder\Developmental hereditary disorder\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\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\Orofacial-digital syndrome III
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofacial-digital syndrome III
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome III

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

358212018 Orofacial-digital syndrome III en Synonym Active Initial character case insensitive SNOMED CT core

358213011 OFD III - Orofacial-digital syndrome III en Synonym Active Case sensitive SNOMED CT core

4643956011 Oral-facial-digital syndrome type 3 en Synonym Active Case insensitive SNOMED CT core

4643957019 Orofaciodigital syndrome type 3 en Synonym Active Case insensitive SNOMED CT core

4643958012 Sugarman syndrome en Synonym Active Case sensitive SNOMED CT core

627991011 Orofacial-digital syndrome III (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Orofacial-digital syndrome III	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Orofacial-digital syndrome III	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Orofacial-digital syndrome III	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Orofacial-digital syndrome III	Finding site	Face structure	true	Inferred relationship	Some	2
Orofacial-digital syndrome III	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Orofacial-digital syndrome III	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Orofacial-digital syndrome III	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Orofacial-digital syndrome III	Finding site	Digit structure	true	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Orofacial-digital syndrome III	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	Dysplasia	true	Inferred relationship	Some	5
Orofacial-digital syndrome III	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome III	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome III	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Orofacial-digital syndrome III	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome III	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Finding site	Limb structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Finding site	Limb structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Orofacial-digital syndrome III	Finding site	Skin structure	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Occurrence	Congenital	true	Inferred relationship	Some	3
Orofacial-digital syndrome III	Occurrence	Congenital	true	Inferred relationship	Some	4
Orofacial-digital syndrome III	Finding site	Skin structure	true	Inferred relationship	Some	4
Orofacial-digital syndrome III	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Orofacial-digital syndrome III	Occurrence	Congenital	true	Inferred relationship	Some	5
Orofacial-digital syndrome III	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Orofacial-digital syndrome III	Finding site	Limb structure	false	Inferred relationship	Some	5
Orofacial-digital syndrome III	Finding site	Face structure	false	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	Developmental abnormality	false	Inferred relationship	Some
Orofacial-digital syndrome III	Associated morphology	Dysplasia	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Finding site	Skin structure	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Occurrence	Congenital	false	Inferred relationship	Some
Orofacial-digital syndrome III	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Orofacial-digital syndrome III	Is a	Oral-facial-digital syndrome	true	Inferred relationship	Some
Orofacial-digital syndrome III	Occurrence	Congenital	true	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Orofacial-digital syndrome III	Finding site	Ectoderm structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Orofacial-digital syndrome III	Finding site	Ectoderm structure	true	Inferred relationship	Some	5
Orofacial-digital syndrome III	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Occurrence	Congenital	true	Inferred relationship	Some	2
Orofacial-digital syndrome III	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	2
Orofacial-digital syndrome III	Finding site	Digit structure	false	Inferred relationship	Some	5

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
358212018	Orofacial-digital syndrome III	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
358213011	OFD III - Orofacial-digital syndrome III	en	Synonym	Active	Case sensitive	SNOMED CT core
4643956011	Oral-facial-digital syndrome type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
4643957019	Orofaciodigital syndrome type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
4643958012	Sugarman syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
627991011	Orofacial-digital syndrome III (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core