FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.9.1 | FHIR Version n/a User: [n/a]

91922000: Congenital absence of jaw (disorder)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital absence of jaw
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital absence of jaw
\Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital absence of jaw
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital absence of jaw

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of jaw	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital absence of jaw	Is a	Congenital anomaly of face bones	false	Inferred relationship	Some
Congenital absence of jaw	Finding site	struktur af bruskvæv	false	Inferred relationship	Some
Congenital absence of jaw	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of jaw	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of jaw	Finding site	Jaw region structure	true	Inferred relationship	Some	1
Congenital absence of jaw	Finding site	Bone structure of face	false	Inferred relationship	Some	2
Congenital absence of jaw	Is a	Congenital anomaly of jaw	false	Inferred relationship	Some
Congenital absence of jaw	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital absence of jaw	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital absence of jaw	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Congenital absence of jaw	Finding site	Bone structure of cranium	false	Inferred relationship	Some	3
Congenital absence of jaw	Is a	Disorder of jaw	false	Inferred relationship	Some
Congenital absence of jaw	Is a	Congenital anomaly of jaw	true	Inferred relationship	Some
Congenital absence of jaw	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of jaw	Finding site	Jaw region structure	false	Inferred relationship	Some	1
Congenital absence of jaw	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of jaw	Finding site	Jaw region structure	false	Inferred relationship	Some	2
Congenital absence of jaw	Is a	Congenital absence	false	Inferred relationship	Some
Congenital absence of jaw	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of jaw	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of jaw	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of jaw	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of mandible	Is a	True	Congenital absence of jaw	Inferred relationship	Some
Congenital absence of maxilla	Is a	True	Congenital absence of jaw	Inferred relationship	Some
Congenital absence of one tooth (disorder)	Is a	False	Congenital absence of jaw	Inferred relationship	Some
Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction.	Is a	False	Congenital absence of jaw	Inferred relationship	Some
Anodontia of permanent dentition	Is a	False	Congenital absence of jaw	Inferred relationship	Some
Anodontia of primary dentition	Is a	False	Congenital absence of jaw	Inferred relationship	Some
Partial congenital absence of teeth	Is a	False	Congenital absence of jaw	Inferred relationship	Some
Congenital absence of chin	Is a	True	Congenital absence of jaw	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 jaw	Inferred relationship	Some
Congenital absence of right mandibular condyle	Is a	False	Congenital absence of jaw	Inferred relationship	Some
Congenital absence of left mandibular condyle	Is a	False	Congenital absence of jaw	Inferred relationship	Some
Anodontia	Is a	True	Congenital absence of jaw	Inferred relationship	Some
Familial hypodontia	Is a	True	Congenital absence of jaw	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	True	Congenital absence of jaw	Inferred relationship	Some
Epidermolysis bullosa simplex with hypodontia	Is a	True	Congenital absence of jaw	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 jaw	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 jaw	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 jaw	Inferred relationship	Some
X-linked hypodontia (disorder)	Is a	True	Congenital absence of jaw	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
152289014	Congenital absence of jaw	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
152290017	Agnathia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
835338018	Congenital absence of jaw (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1440961000005114	Kongenit mangel på kæbe	da	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)
1572361000005116	Kongenit manglende kæbe	da	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)
3427371000005113	kongenit manglende kæbe	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)