1148766007: Hereditary disorder of tooth (disorder)

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

\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth
\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\Hereditary disorder of tooth
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth

\Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of tooth	Is a	Tooth disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary disorder of tooth	Finding site	Tooth structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary disorder of tooth	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleidocranial dysostosis	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
XTE syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypohidrotic X-linked ectodermal dysplasia	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Odontotrichomelic syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Anodontia	Is a	False	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Teebi Shaltout syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia syndactyly syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Postaxial polydactyly, dental, vertebral anomalies syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Dentin dysplasia (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Steatocystoma multiplex with natal tooth syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Haim Munk syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Dermo-odonto dysplasia (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculotrichodysplasia	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	False	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Ackerman syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Book syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia trichoodontoonychial type (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Nance-Horan syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Curry-Hall syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
absence de développement d'une dent	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Incontinentia pigmenti syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Erythrokeratodermia cardiomyopathy syndrome	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
4H leucodystrophy	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Primary failure of tooth eruption (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Otodental syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar-facial-dental syndrome (disorder)	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.	Is a	True	Hereditary disorder of tooth	Inferred relationship	Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation	Is a	True	Hereditary disorder of tooth	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
4551863012	Hereditary disorder of tooth	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4551864018	Hereditary disorder of tooth (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4551863012	Hereditary disorder of tooth	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4551864018	Hereditary disorder of tooth (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6277861000241110	affection dentaire héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6277871000241119	affection héréditaire d'une dent	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6277861000241110	affection dentaire héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6277871000241119	affection héréditaire d'une dent	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module