52868006: Oral-facial-digital syndrome (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

\Digestive system finding\Finding of mouth region\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Digestive system finding\Disorder of digestive system\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

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

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

\Congenital anomaly of limb\Congenital anomaly of digit\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\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 of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome

\Finding of head and neck region\Head finding\...

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

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

\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
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome

\Disease\Genetic disease\Oral-facial-digital syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome
\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
\Disease\Disorder of body system\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 digestive system\Disorder of digestive tract\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 of digestive tract\Disorder of upper 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 of digestive tract\Disorder of upper digestive tract\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\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 extremity\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome
\Disease\Disorder of head\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\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
\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
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\Disease\Congenital disease\Congenital malformation\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
\Disease\Congenital disease\Congenital malformation\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
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome
\Disease\Congenital disease\Congenital malformation\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome
\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
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome
\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
\Disease\Developmental disorder\Congenital malformation\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
\Disease\Developmental disorder\Congenital malformation\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
\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\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\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

87975013 Oral-facial-digital syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
87976014 OFD syndrome type I en Synonym Inactive Entire term case sensitive SNOMED CT core module
87977017 Orodigitofacial dysostosis en Synonym Active Entire term case insensitive SNOMED CT core module
87978010 Papillon-Léage and Psaume syndrome en Synonym Inactive Entire term case sensitive SNOMED CT core module
496463018 Orofacial-digital syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
496464012 Orofacial-digital syndrome I en Synonym Inactive Only initial character case insensitive SNOMED CT core module
496465013 Papillon-Leage-Psaume syndrome en Synonym Inactive Entire term case sensitive SNOMED CT core module
496466014 Papillon-Leage syndrome en Synonym Inactive Entire term case sensitive SNOMED CT core module
496467017 OFD I - Orofacial-digital syndrome I en Synonym Inactive Entire term case sensitive SNOMED CT core module
790924016 Oral-facial-digital syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Oral-facial-digital syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Oral-facial-digital syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Oral-facial-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	4
Oral-facial-digital syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Oral-facial-digital syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Oral-facial-digital syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Oral-facial-digital syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	4
Oral-facial-digital syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Is a	Congenital abnormality of oral cavity	true	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Finding site	Structure of region of internal part of mouth	true	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Finding site	Structure of region of internal part of mouth	false	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Oral-facial-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Oral-facial-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Oral-facial-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Oral-facial-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Oral-facial-digital syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	4
Oral-facial-digital syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Orofacial-digital syndrome III	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Orofacial-digital syndrome IV	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Mohr syndrome	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 9	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 11	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Joubert syndrome with orofaciodigital defect	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 10	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 5	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 8	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 1	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 12	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 13	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oro-facial digital syndrome type 14	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome with short stature and brachymesophalangia	Is a	True	Oral-facial-digital syndrome	Inferred relationship	Existential restriction modifier

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	Active	Entire term case insensitive	SNOMED CT core module
87976014	OFD syndrome type I	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
87977017	Orodigitofacial dysostosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
87978010	Papillon-Léage and Psaume syndrome	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
496463018	Orofacial-digital syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
496464012	Orofacial-digital syndrome I	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
496465013	Papillon-Leage-Psaume syndrome	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
496466014	Papillon-Leage syndrome	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
496467017	OFD I - Orofacial-digital syndrome I	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
790924016	Oral-facial-digital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module