766813000: Trichoodontoonychial dysplasia (disorder)

\Genetic disorder of nail (disorder)\Trichoodontoonychial dysplasia

\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\...

\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia

\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail (disorder)\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia

\Finding of limb structure (finding)\Nail finding\Disorder of nail\Genetic disorder of nail (disorder)\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Disorder of nail\Genetic disorder of nail (disorder)\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects\Trichoodontoonychial dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3662701012 Trichoodontoonychial dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662702017 Trichoodontoonychial dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662703010 Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404663016 Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404664010 Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3662701012 Trichoodontoonychial dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662702017 Trichoodontoonychial dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662703010 Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662704016 A rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3662705015 A rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404663016 Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404664010 Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3412471001000112 Tricho-odonto-onychiale Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

883661000172114 dysplasie tricho-odonto-onychiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1018141000172111 syndrome de dysplasie tricho-odonto-onychiale, anomalie des os fronto-pariétaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

883661000172114 dysplasie tricho-odonto-onychiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1018141000172111 syndrome de dysplasie tricho-odonto-onychiale, anomalie des os fronto-pariétaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3412471001000112 Tricho-odonto-onychiale Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trichoodontoonychial dysplasia	Finding site	Tooth structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichoodontoonychial dysplasia	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichoodontoonychial dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichoodontoonychial dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trichoodontoonychial dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Trichoodontoonychial dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Trichoodontoonychial dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichoodontoonychial dysplasia	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Trichoodontoonychial dysplasia	Is a	Ectodermal dysplasia with hair-tooth-nail defects	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Is a	Congenital anomaly of tooth (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Is a	Congenital anomaly of nail	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichoodontoonychial dysplasia	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trichoodontoonychial dysplasia	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichoodontoonychial dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trichoodontoonychial dysplasia	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichoodontoonychial dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trichoodontoonychial dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichoodontoonychial dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trichoodontoonychial dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichoodontoonychial dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichoodontoonychial dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichoodontoonychial dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Trichoodontoonychial dysplasia	Finding site	Nail unit structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trichoodontoonychial dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Trichoodontoonychial dysplasia	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Finding site	Hair structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichoodontoonychial dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia	Is a	Hereditary disorder of tooth	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3662701012	Trichoodontoonychial dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662702017	Trichoodontoonychial dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662703010	Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404663016	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404664010	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662701012	Trichoodontoonychial dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662702017	Trichoodontoonychial dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662703010	Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662704016	A rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662705015	A rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404663016	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404664010	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterised by severe generalised hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including naevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3412471001000112	Tricho-odonto-onychiale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
883661000172114	dysplasie tricho-odonto-onychiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018141000172111	syndrome de dysplasie tricho-odonto-onychiale, anomalie des os fronto-pariétaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
883661000172114	dysplasie tricho-odonto-onychiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018141000172111	syndrome de dysplasie tricho-odonto-onychiale, anomalie des os fronto-pariétaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412471001000112	Tricho-odonto-onychiale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module