64969001: Partial congenital absence of teeth (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 abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth (disorder)\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth (disorder)\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Congenital anomaly in number of teeth (disorder)\Partial congenital absence of teeth

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial congenital absence of teeth	Is a	Anodontia	false	Inferred relationship	Some
Partial congenital absence of teeth	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Jaw region structure	false	Inferred relationship	Some
Partial congenital absence of teeth	Occurrence	Congenital	false	Inferred relationship	Some
Partial congenital absence of teeth	Finding site	All deciduous teeth	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Tongue structure	false	Inferred relationship	Some
Partial congenital absence of teeth	Associated morphology	kongenit partiel mangel	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Is a	Congenital partial absence of alimentary tract	false	Inferred relationship	Some
Partial congenital absence of teeth	Finding site	Face structure	false	Inferred relationship	Some
Partial congenital absence of teeth	Associated morphology	Kongenit abnormt antal	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Oral cavity structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Upper aerodigestive tract structure	false	Inferred relationship	Some
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Associated morphology	kongenit udviklingsanomali	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Is a	Congenital absence of mouth	false	Inferred relationship	Some
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	true	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Tooth structure	true	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Is a	Congenital absence of jaw	false	Inferred relationship	Some
Partial congenital absence of teeth	Associated morphology	kongenit udviklingsanomali	false	Inferred relationship	Some
Partial congenital absence of teeth	Associated morphology	kongenit partiel mangel	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Is a	Congenital malformation of upper alimentary tract	false	Inferred relationship	Some
Partial congenital absence of teeth	Occurrence	Congenital	false	Inferred relationship	Some	3
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	3
Partial congenital absence of teeth	Is a	Congenital anomaly in number of teeth (disorder)	true	Inferred relationship	Some
Partial congenital absence of teeth	Associated morphology	kongenit partiel mangel	false	Inferred relationship	Some	3
Partial congenital absence of teeth	Occurrence	Congenital	false	Inferred relationship	Some	4
Partial congenital absence of teeth	Associated morphology	Kongenit abnormt antal	false	Inferred relationship	Some	4
Partial congenital absence of teeth	Finding site	Tooth structure	false	Inferred relationship	Some	4
Partial congenital absence of teeth	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial congenital absence of teeth	Associated morphology	Kongenit abnormt antal	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Finding site	Entire tooth	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial congenital absence of teeth	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Finding site	Entire tooth	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Partial congenital absence of teeth	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Partial congenital absence of teeth	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	2
Partial congenital absence of teeth	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Partial congenital absence of teeth	Associated morphology	Abnormal number (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of one tooth (disorder)	Is a	False	Partial congenital absence of teeth	Inferred relationship	Some
Kongenit hypodonti, multiple tænder, uden relation til systemisk sygdom	Is a	False	Partial congenital absence of teeth	Inferred relationship	Some
Kongenit hypodonti, multiple tænder, i relation til systemisk sygdom	Is a	False	Partial congenital absence of teeth	Inferred relationship	Some
Familial hypodontia	Is a	True	Partial congenital absence of teeth	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	True	Partial congenital absence of teeth	Inferred relationship	Some
Kongenit hypodonti, multiple tænder, i relation til systemisk sygdom	Is a	False	Partial congenital absence of teeth	Inferred relationship	Some
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	Is a	False	Partial congenital absence of teeth	Inferred relationship	Some
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.	Is a	False	Partial congenital absence of teeth	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	Partial congenital absence of teeth	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	True	Partial congenital absence of teeth	Inferred relationship	Some
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	Is a	False	Partial congenital absence of teeth	Inferred relationship	Some
A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.	Is a	False	Partial congenital absence of teeth	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	Partial congenital absence of teeth	Inferred relationship	Some
Epidermolysis bullosa simplex with hypodontia	Is a	True	Partial congenital absence of teeth	Inferred relationship	Some
Anodonti i blivende tænder og primære tænder	Is a	False	Partial congenital absence of teeth	Inferred relationship	Some
X-linked hypodontia (disorder)	Is a	True	Partial congenital absence of teeth	Inferred relationship	Some
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	Is a	True	Partial congenital absence of teeth	Inferred relationship	Some
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.	Is a	True	Partial congenital absence of teeth	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
107996019	Partial congenital absence of teeth	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
107997011	Hypodontia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499993019	Partial anodontia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804420011	Partial congenital absence of teeth (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5049711000005113	kongenit partiel mangel af tænder	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)