52868006: Oral-facial-digital syndrome (disorder)

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

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

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

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

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome
\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

\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome
\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
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome

\Disease\Genetic disease\Oral-facial-digital syndrome
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome
\Disease\Fetal and/or neonatal disorder\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Disease\Fetal and/or neonatal disorder\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome
\Disease\Fetal and/or neonatal 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
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome
\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
\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
\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
\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
\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
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\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
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\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
\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
\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
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome

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
Oral-facial-digital syndrome	Is a	Ectodermal dysplasia with hair-tooth defects	false	Inferred relationship	Some
Oral-facial-digital syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Oral-facial-digital syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	2
Oral-facial-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Oral-facial-digital syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Oral-facial-digital syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Oral-facial-digital syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Oral-facial-digital syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	3
Oral-facial-digital syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Oral-facial-digital syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Some
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Oral-facial-digital syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Oral-facial-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Oral-facial-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Oral-facial-digital syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Oral-facial-digital syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	4
Oral-facial-digital syndrome	Finding site	Skin structure	true	Inferred relationship	Some	5
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Oral-facial-digital syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	5
Oral-facial-digital syndrome	Finding site	Limb structure	false	Inferred relationship	Some	5
Oral-facial-digital syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Oral-facial-digital syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Oral-facial-digital syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	4
Oral-facial-digital syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Oral-facial-digital syndrome	Is a	Congenital abnormality of oral cavity	true	Inferred relationship	Some
Oral-facial-digital syndrome	Is a	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Oral-facial-digital syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Oral-facial-digital syndrome	Finding site	Digit structure	false	Inferred relationship	Some	2
Oral-facial-digital syndrome	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	2
Oral-facial-digital syndrome	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	5
Oral-facial-digital syndrome	Finding site	Digit structure	true	Inferred relationship	Some	3
Oral-facial-digital syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oral-facial-digital syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Oral-facial-digital syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Oral-facial-digital syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Oral-facial-digital syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Oral-facial-digital syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Oral-facial-digital syndrome	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Orofacial-digital syndrome III	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Orofacial-digital syndrome IV	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Mohr syndrome	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Oro-facial digital syndrome type 10 (disorder)	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Oro-facial digital syndrome type 12	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Oro-facial digital syndrome type 13	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some
A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
87975013	Oral-facial-digital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
87977017	Orodigitofacial dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496463018	Orofacial-digital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
790924016	Oral-facial-digital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6915451000241111	syndrome oro-facio-digital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418851001000116	Oro-fazio-digitales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module