239031000: orofaciodigitaal syndroom type 4 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV

\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome IV

\Finding of limb structure\Disorder of limb (disorder)\...

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

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\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 (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\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 involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\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 (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 (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Congenital disease (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\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\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\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 (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 involving the integument of fetus OR newborn\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 integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Orofacial-digital syndrome IV
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary 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)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary 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)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\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 (disorder)\Disorder of digestive system specific to fetus OR newborn\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\Orofacial-digital syndrome IV
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of limb (disorder)\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 (disorder)\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)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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 (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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 malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital malformation syndrome (disorder)\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 malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 malformation\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 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\Orofacial-digital syndrome IV
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Orofacial-digital syndrome IV
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofacial-digital syndrome IV

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Orofacial-digital syndrome IV	Is a	Oral-facial-digital syndrome	true	Inferred relationship	Some
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	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some
Orofacial-digital syndrome IV	Finding site	Limb structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	congenitale dysplasie (afwijkende morfologie)	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	congenitale dysplasie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Occurrence	Congenital	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	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	Occurrence	Congenital	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Finding site	Ectoderm structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Finding site	Ectoderm structure	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	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
Orofacial-digital syndrome IV	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Pathological process (attribute)	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 (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	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 (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

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
358214017	OFD IV - Orofacial-digital syndrome IV	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
358215016	Orofacial-digital syndrome IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
627992016	Orofacial-digital syndrome IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643959016	Orofaciodigital syndrome type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643960014	Oral-facial-digital syndrome type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643961013	Baraitser Burn syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643962018	Mohr Majewski syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6706411000146110	OFD4	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706421000146117	OFD-syndroom 4	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706431000146115	orofaciodigitaal syndroom type 4	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706441000146111	orofaciodigitaal syndroom type 4 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706451000146114	oraal-faciaal-digitaal syndroom IV	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706461000146112	Baraitser-Burn-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706471000146118	orofaciodigitaal syndroom met tibiadysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6706491000146119	syndroom van Baraitser-Burn	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)