722106001: Oro-facial digital syndrome type 8 (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\Orofaciodigital syndrome type 8

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Orofaciodigital syndrome type 8

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

\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8

\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8

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

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

\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Orofaciodigital syndrome type 8
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Orofaciodigital syndrome type 8
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Orofaciodigital syndrome type 8

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8

\Disease\Genetic disease\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Orofaciodigital syndrome type 8
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Orofaciodigital syndrome type 8
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Orofaciodigital syndrome type 8
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Orofaciodigital syndrome type 8
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\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\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\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\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\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\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\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\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Developmental hereditary disorder\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\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\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\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\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\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\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Orofaciodigital syndrome type 8

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3330713013 Oro-facial digital syndrome type 8 en Synonym Active Case insensitive SNOMED CT core

3330714019 Orofaciodigital syndrome type 8 en Synonym Active Case insensitive SNOMED CT core

3330715018 Oral-facial-digital syndrome Edwards type en Synonym Active Initial character case insensitive SNOMED CT core

3330716017 Orofaciodigital syndrome Edwards type en Synonym Active Initial character case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330712015	Oro-facial digital syndrome type 8 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330713013	Oro-facial digital syndrome type 8	en	Synonym	Active	Case insensitive	SNOMED CT core
3330714019	Orofaciodigital syndrome type 8	en	Synonym	Active	Case insensitive	SNOMED CT core
3330715018	Oral-facial-digital syndrome Edwards type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3330716017	Orofaciodigital syndrome Edwards type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core