91946007: Congenital absence of mouth (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital absence of mouth (disorder)

\Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital absence of alimentary tract (disorder)\Congenital partial absence of alimentary tract\Congenital absence of mouth (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital absence of alimentary tract (disorder)\Congenital partial absence of alimentary tract\Congenital absence of mouth (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital absence of alimentary tract (disorder)\Congenital partial absence of alimentary tract\Congenital absence of mouth (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 absence of mouth (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 absence of alimentary tract (disorder)\Congenital partial absence of alimentary tract\Congenital absence of mouth (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital absence of alimentary tract (disorder)\Congenital partial absence of alimentary tract\Congenital absence of mouth (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital absence of alimentary tract (disorder)\Congenital partial absence of alimentary tract\Congenital absence of mouth (disorder)
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital absence of mouth (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital absence of alimentary tract (disorder)\Congenital partial absence of alimentary tract\Congenital absence of mouth (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of mouth (disorder)	Is a	Congenital anomaly of mouth	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Is a	Congenital absence of alimentary tract (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Is a	Congenital abnormality of oral cavity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Finding site	Jaw region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Finding site	Upper gastrointestinal tract structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Finding site	Tongue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Finding site	Mouth region structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of mouth (disorder)	Finding site	Oral cavity structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Finding site	Upper aerodigestive tract structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of mouth (disorder)	Finding site	Upper digestive tract structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital absence of mouth (disorder)	Is a	Congenital anomaly of mouth	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Finding site	Mouth region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Is a	Congenital absence of alimentary tract (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Finding site	Mouth region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of mouth (disorder)	Is a	Congenital partial absence of alimentary tract	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of mouth (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of mouth (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of uvula	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Tongue absent	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial congenital absence of teeth (disorder)	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleidocranial dysostosis	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction.	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of one tooth	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Anodontia of primary dentition	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Anodontia of permanent dentition	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypodontia, multiple teeth, related to systemic disease	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Acephalostomia (disorder)	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of palatine bone	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of salivary gland	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of enamel	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Tongue absent	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Anodontia	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypodontia	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypodontia and nail dysgenesis	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with hypodontia	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	False	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Oligodontia is a rare developmental dental anomaly with clinical features that include six or more missing teeth, lack of development of maxillary and mandibular alveolar bone height and reduced lower facial height. Variation in tooth morphology is also observed along with problems in tooth development, eruption and exfoliation. Possible causes of oligodontia include viral disease during pregnancy, genetic predisposition, metabolic imbalances, developmental abnormalities and environmental factors. Autosomal dominant mutations in PAX9 and MSX1 have been found in patients with molar non-syndromic oligodontia.	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hypodontia (disorder)	Is a	True	Congenital absence of mouth (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
152320013	Congenital absence of mouth	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
152321012	Astomia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
835366014	Congenital absence of mouth (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
152320013	Congenital absence of mouth	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
152320013	Congenital absence of mouth	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
152321012	Astomia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
152321012	Astomia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
835366014	Congenital absence of mouth (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
835366014	Congenital absence of mouth (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5890461000241114	absence congénitale de la bouche	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5890471000241118	absence buccale congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5890461000241114	absence congénitale de la bouche	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5890471000241118	absence buccale congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module