239031000: Orofacial-digital syndrome IV (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 IV

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

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

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

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

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

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

358214017 OFD IV - Orofacial-digital syndrome IV en Synonym Active Case sensitive SNOMED CT core

358215016 Orofacial-digital syndrome IV en Synonym Active Initial character case insensitive SNOMED CT core

4643959016 Orofaciodigital syndrome type 4 en Synonym Active Case insensitive SNOMED CT core

4643960014 Oral-facial-digital syndrome type 4 en Synonym Active Case insensitive SNOMED CT core

4643961013 Baraitser Burn syndrome en Synonym Active Case sensitive SNOMED CT core

4643962018 Mohr Majewski syndrome en Synonym Active Case sensitive SNOMED CT core

627992016 Orofacial-digital syndrome IV (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 IV	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Finding site	Digit structure	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Finding site	Face structure	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	Dysplasia	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome IV	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome IV	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Orofacial-digital syndrome IV	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome IV	Finding site	Limb structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Finding site	Limb structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Finding site	Skin structure	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Occurrence	Congenital	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Occurrence	Congenital	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Finding site	Skin structure	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Occurrence	Congenital	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Finding site	Limb structure	false	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Finding site	Face structure	false	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Orofacial-digital syndrome IV	Occurrence	Congenital	false	Inferred relationship	Some
Orofacial-digital syndrome IV	Finding site	Skin structure	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	Developmental abnormality	false	Inferred relationship	Some
Orofacial-digital syndrome IV	Is a	Oral-facial-digital syndrome	true	Inferred relationship	Some
Orofacial-digital syndrome IV	Occurrence	Congenital	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Finding site	Ectoderm structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Finding site	Ectoderm structure	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Occurrence	Congenital	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	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
358214017	OFD IV - Orofacial-digital syndrome IV	en	Synonym	Active	Case sensitive	SNOMED CT core
358215016	Orofacial-digital syndrome IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643959016	Orofaciodigital syndrome type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
4643960014	Oral-facial-digital syndrome type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
4643961013	Baraitser Burn syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4643962018	Mohr Majewski syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
627992016	Orofacial-digital syndrome IV (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core