722106001: Oro-facial digital syndrome type 8 (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\Oro-facial digital syndrome type 8 (disorder)

\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\Oro-facial digital syndrome type 8 (disorder)
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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 8 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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 8 (disorder)
\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 8 (disorder)
\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 8 (disorder)

\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 8 (disorder)
\Digestive system finding (finding)\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\Oro-facial digital syndrome type 8 (disorder)
\Digestive system finding (finding)\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\Oro-facial digital syndrome type 8 (disorder)
\Digestive system finding (finding)\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\Oro-facial digital syndrome type 8 (disorder)
\Digestive system finding (finding)\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\Oro-facial digital syndrome type 8 (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Oro-facial digital syndrome type 8 (disorder)

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

\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\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\Oro-facial digital syndrome type 8 (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Oro-facial digital syndrome type 8 (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Oro-facial digital syndrome type 8 (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Oro-facial digital syndrome type 8 (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)

\Disease\Genetic disease\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 8 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
\Disease\Genetic disease\Hereditary disease\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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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 8 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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 8 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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 8 (disorder)
\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 8 (disorder)
\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 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oro-facial digital syndrome type 8 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Developmental 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 8 (disorder)
\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\Oro-facial digital syndrome type 8 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 8 (disorder)
\Disease\Developmental 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 8 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\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

5402821018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402822013 Oral-facial-digital syndrome, type 8 is characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oro-facial digital syndrome type 8 (disorder)	Is a	Oral-facial-digital syndrome	true	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Finding site	Face structure	false	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Oro-facial digital syndrome type 8 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Oro-facial digital syndrome type 8 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Oro-facial digital syndrome type 8 (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	6
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	7
Oro-facial digital syndrome type 8 (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	7
Oro-facial digital syndrome type 8 (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 8 (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 8 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Oro-facial digital syndrome type 8 (disorder)	Finding site	Structure of internal part of mouth	false	Inferred relationship	Some	3
Oro-facial digital syndrome type 8 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 8 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 8 (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Oro-facial digital syndrome type 8 (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Oro-facial digital syndrome type 8 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Oro-facial digital syndrome type 8 (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Oro-facial digital syndrome type 8 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

GB English

US English

Back to Start

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
5402821018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402822013	Oral-facial-digital syndrome, type 8 is characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core