763837007: Oro-facial digital syndrome type 14 (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 14

\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 14
\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 14
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 14
\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 14
\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 14
\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 14
\Digestive system finding (finding)\Disorder of digestive system (disorder)\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 14

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Oro-facial digital syndrome type 14

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oro-facial digital syndrome type 14

\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 14

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14

\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 14
\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 14

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

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oro-facial digital syndrome type 14

\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 14
\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 14
\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 14

\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 14
\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 14
\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Oro-facial digital syndrome type 14
\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 14
\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 14

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Oro-facial digital syndrome type 14
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Oro-facial digital syndrome type 14
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Oro-facial digital syndrome type 14

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oro-facial digital syndrome type 14
\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 14
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\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 14

\Disease\Genetic disease\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oro-facial digital syndrome type 14
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 14
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oro-facial digital syndrome type 14
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oro-facial digital syndrome type 14
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oro-facial digital syndrome type 14
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 14
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oro-facial digital syndrome type 14
\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 14
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Oro-facial digital syndrome type 14
\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 14
\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 14
\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 14
\Disease\Disorder of body system\Disorder of digestive system (disorder)\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 14
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\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 14
\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 14
\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 14
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Oro-facial digital syndrome type 14
\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 14
\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 14
\Disease\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 14
\Disease\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 14
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oro-facial digital syndrome type 14
\Disease\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 14
\Disease\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 14
\Disease\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 14
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Disease\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 14
\Disease\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 14
\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 14
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oro-facial digital syndrome type 14
\Disease\Developmental disorder\Developmental hereditary disorder\Oro-facial digital syndrome type 14
\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 14
\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 14
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Oro-facial digital syndrome type 14
\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 14
\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 14
\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 14
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome\Oro-facial digital syndrome type 14
\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 14
\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 14

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

3644670013 Oro-facial digital syndrome type 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644671012 Oro-facial digital syndrome type 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644672017 Microcephaly, cerebral malformation, orofaciodigital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644673010 Orofaciodigital syndrome type 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3664245012 A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4131831000052115 orofaciodigitalt syndrom, typ 14 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oro-facial digital syndrome type 14	Is a	mikrocefali	false	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	Oral-facial-digital syndrome	true	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	Intellectual disability	true	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Oro-facial digital syndrome type 14	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Occurrence	Congenital	true	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Finding site	Skin structure	false	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Finding site	Ectoderm structure	true	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Occurrence	Congenital	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Occurrence	Congenital	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Occurrence	Congenital	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Occurrence	Congenital	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 14	Occurrence	Congenital	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	Finding site	Skin structure	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Finding site	Brain structure	false	Inferred relationship	Some	4
Oro-facial digital syndrome type 14	Finding site	Face structure	false	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Associated morphology	Congenital smallness	false	Inferred relationship	Some	4
Oro-facial digital syndrome type 14	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Finding site	Face structure	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	Finding site	Ectoderm structure	false	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	Finding site	Digit structure	false	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Finding site	Brain structure	false	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Finding site	Structure of internal part of mouth	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Finding site	Digit structure	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 14	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 14	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Oro-facial digital syndrome type 14	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	Associated morphology	Dysplasia	true	Inferred relationship	Some	6
Oro-facial digital syndrome type 14	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oro-facial digital syndrome type 14	Interprets	Birth head circumference	true	Inferred relationship	Some	7
Oro-facial digital syndrome type 14	Finding site	Head structure	true	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Has interpretation	Below reference range	true	Inferred relationship	Some	7
Oro-facial digital syndrome type 14	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Oro-facial digital syndrome type 14	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	8
Oro-facial digital syndrome type 14	Has interpretation	Impaired	true	Inferred relationship	Some	8
Oro-facial digital syndrome type 14	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	9
Oro-facial digital syndrome type 14	Has interpretation	Impaired	true	Inferred relationship	Some	9

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644670013	Oro-facial digital syndrome type 14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644671012	Oro-facial digital syndrome type 14 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644672017	Microcephaly, cerebral malformation, orofaciodigital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644673010	Orofaciodigital syndrome type 14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664245012	A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4131831000052115	orofaciodigitalt syndrom, typ 14	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)