239031000: Orofacial-digital syndrome IV (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Orofacial-digital syndrome IV
\Digestive system finding (finding)\maladie de l'appareil digestif\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 (disorder)\Orofacial-digital syndrome IV
\Digestive system finding (finding)\maladie de l'appareil digestif\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 (disorder)\Orofacial-digital syndrome IV
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Digestive system finding (finding)\maladie de l'appareil digestif\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 (disorder)\Orofacial-digital syndrome IV

\constatation à propos de la structure d'un membre\affection d'une extrémité\...

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

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

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\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 (disorder)\Orofacial-digital syndrome IV

\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\affection de la tête\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 (disorder)\Orofacial-digital syndrome IV
\affection de la tête\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 (disorder)\Orofacial-digital syndrome IV
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Orofacial-digital syndrome IV
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV

\Disease\Genetic disease\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Orofacial-digital syndrome IV
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Orofacial-digital syndrome IV
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Orofacial-digital syndrome IV
\Disease\Genetic disease\maladie héréditaire\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 (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\maladie de l'appareil digestif\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 (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\maladie de l'appareil digestif\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 (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'un système corporel\maladie de l'appareil digestif\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 (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\affection de la tête\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 (disorder)\Orofacial-digital syndrome IV
\Disease\affection de la tête\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 (disorder)\Orofacial-digital syndrome IV
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\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 (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\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 (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\Developmental hereditary disorder\Orofacial-digital syndrome IV
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\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 (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\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 (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Orofacial-digital syndrome IV
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\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	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	Digit structure	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	face	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	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	Structure of internal part of mouth	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome IV	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome IV	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Orofacial-digital syndrome IV	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Orofacial-digital syndrome IV	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	4
Orofacial-digital syndrome IV	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Orofacial-digital syndrome IV	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
Orofacial-digital syndrome IV	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	5
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	3
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	Musculoskeletal structure of limb	false	Inferred relationship	Some
Orofacial-digital syndrome IV	survenue (attribut)	congénital	false	Inferred relationship	Some
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some
Orofacial-digital syndrome IV	est un(e) (attribut)	Oral-facial-digital syndrome (disorder)	true	Inferred relationship	Some
Orofacial-digital syndrome IV	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Orofacial-digital syndrome IV	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	Ectoderm structure	false	Inferred relationship	Some	1
Orofacial-digital syndrome IV	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	5
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	5
Orofacial-digital syndrome IV	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	Structure of internal part of mouth	false	Inferred relationship	Some	2
Orofacial-digital syndrome IV	localisation d'une constatation (attribut)	Digit structure	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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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
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
627992016	Orofacial-digital syndrome IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core