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91946007: Congenital absence of mouth (disorder)

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

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

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

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	Is a	Congenital anomaly of mouth (disorder)	false	Inferred relationship	Some
Congenital absence of mouth	Is a	Congenital absence of alimentary tract	false	Inferred relationship	Some
Congenital absence of mouth	Is a	Congenital abnormality of oral cavity	false	Inferred relationship	Some
Congenital absence of mouth	Finding site	Jaw region structure	false	Inferred relationship	Some
Congenital absence of mouth	Finding site	Esophagus, stomach, and duodenum.	false	Inferred relationship	Some	2
Congenital absence of mouth	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of mouth	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of mouth	Finding site	Tongue structure	false	Inferred relationship	Some
Congenital absence of mouth	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Congenital absence of mouth	Finding site	Mouth region structure	true	Inferred relationship	Some	1
Congenital absence of mouth	Finding site	Face structure	false	Inferred relationship	Some	3
Congenital absence of mouth	Finding site	Oral cavity structure	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Finding site	Upper aerodigestive tract structure	false	Inferred relationship	Some
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Congenital absence of mouth	Finding site	Upper digestive tract structure	false	Inferred relationship	Some	3
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Congenital absence of mouth	Is a	Congenital anomaly of mouth (disorder)	true	Inferred relationship	Some
Congenital absence of mouth	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of mouth	Finding site	Mouth region structure	false	Inferred relationship	Some	1
Congenital absence of mouth	Is a	Congenital absence of alimentary tract	false	Inferred relationship	Some
Congenital absence of mouth	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of mouth	Finding site	Mouth region structure	false	Inferred relationship	Some	2
Congenital absence of mouth	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of mouth	Is a	Congenital partial absence of alimentary tract	true	Inferred relationship	Some
Congenital absence of mouth	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of mouth	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of mouth	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of uvula	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Tongue absent	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Partial congenital absence of teeth	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Cleidocranial dysostosis	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction.	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Congenital absence of one tooth (disorder)	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Anodontia of primary dentition	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Anodontia of permanent dentition	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Kongenit hypodonti, multiple tænder, i relation til systemisk sygdom	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Acephalostomia	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Congenital absence of palatine bone	Is a	False	Congenital absence of mouth	Inferred relationship	Some
Congenital absence of salivary gland	Is a	True	Congenital absence of mouth	Inferred relationship	Some
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.	Is a	True	Congenital absence of mouth	Inferred relationship	Some
Tongue absent	Is a	True	Congenital absence of mouth	Inferred relationship	Some
Anodontia	Is a	True	Congenital absence of mouth	Inferred relationship	Some
Familial hypodontia	Is a	True	Congenital absence of mouth	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	True	Congenital absence of mouth	Inferred relationship	Some
Epidermolysis bullosa simplex with hypodontia	Is a	True	Congenital absence of mouth	Inferred relationship	Some
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	Inferred relationship	Some
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.	Is a	False	Congenital absence of mouth	Inferred relationship	Some
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	Inferred relationship	Some
X-linked hypodontia (disorder)	Is a	True	Congenital absence of mouth	Inferred relationship	Some

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
1572371000005114	Kongenit manglende mund	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)