763833006: Oro-facial digital syndrome type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \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\Oro-facial digital syndrome type 1
• \Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \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\Oro-facial digital syndrome type 1
• \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\Oro-facial digital syndrome type 1
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Digestive system finding (finding)\Disease of digestive system (disorder)\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\Oro-facial digital syndrome type 1
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\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\Oro-facial digital syndrome type 1
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Digestive system finding (finding)\Disease 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\Oro-facial digital syndrome type 1
• \Finding of limb structure (finding)\Disorder of limb\...
• \Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \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 (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Genetic disease\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\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\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\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\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\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\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\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\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \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\Oro-facial digital syndrome type 1
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of body system\Disease of digestive system (disorder)\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\Oro-facial digital syndrome type 1
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\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\Oro-facial digital syndrome type 1
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of body system\Disease 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\Oro-facial digital syndrome type 1
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \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\Oro-facial digital syndrome type 1
• \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\Oro-facial digital syndrome type 1
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (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\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (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\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (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\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (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\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3644650019	Oro-facial digital syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644651015	Orofaciodigital syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644652010	Oro-facial digital syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644653017	Papillon Léage Psaume syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404232011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404233018	Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644650019	Oro-facial digital syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644651015	Orofaciodigital syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644652010	Oro-facial digital syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644653017	Papillon Léage Psaume syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3646013016	A rare neurodevelopmental disorder that is lethal in males and with characteristics of variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system and of viscera (kidneys, pancreas and ovaries) in females. The disease is caused by mutations in the OFD1 gene (Xp22). A fraction of cases display genomic deletions. High penetrance has been reported but expression is highly variable. Follows an X-linked dominant pattern of inheritance. The gene mutations commonly occur de novo.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404232011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404233018	Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432381001000114	Oro-fazio-digitales Syndrom Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6436221000241117	syndrome de Papillon-Léage-Psaume	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6436231000241115	syndrome oro-facio-digital de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6436241000241113	OFD1 - syndrome oro-facio-digital de type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6436221000241117	syndrome de Papillon-Léage-Psaume	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6436231000241115	syndrome oro-facio-digital de type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6436241000241113	OFD1 - syndrome oro-facio-digital de type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432381001000114	Oro-fazio-digitales Syndrom Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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