722106001: syndrome oro-facio-digital type 8 (trouble)

• 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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Genetic disease\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Oro-facial digital syndrome type 8 (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)
• \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)\Oro-facial digital syndrome type 8 (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Oro-facial digital syndrome type 8 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330712015	Oro-facial digital syndrome type 8 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330713013	Oro-facial digital syndrome type 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330714019	Orofaciodigital syndrome type 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330715018	Oral-facial-digital syndrome Edwards type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330716017	Orofaciodigital syndrome Edwards type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
758241000241118	syndrome oro-facio-digital type 8 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
955691000172116	OFD8 - orofaciodigital syndrome type 8	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
990391000172110	syndrome oro-facio-digital type 8	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330717014	Syndrome with characteristics of tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibia and/or radius, duplication of the halluces, short stature and mild intellectual deficit. The syndrome has been described in one family with four affected males in three generations. Increased susceptibility to respiratory infections has been noted. X-linked recessive transmission has been suggested, but the causative gene has not yet been identified.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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