Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3705208019 |
Kopysc Barczyk Krol syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3705209010 |
Pilodental dysplasia, refractive errors syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3705210017 |
Pilodental dysplasia, refractive errors syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3705211018 |
Euhidrotic ectodermal dysplasia |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3705212013 |
A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3705208019 |
Kopysc Barczyk Krol syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3705209010 |
Pilodental dysplasia, refractive errors syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3705210017 |
Pilodental dysplasia, refractive errors syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3705211018 |
Euhidrotic ectodermal dysplasia |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3705212013 |
A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
544591000274118 |
Ektodermale euhidrotische Dysplasie |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
574871000274119 |
Syndrom mit pilo-dentaler Dysplasie und Refranktionsanomalien |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
906081000172110 |
dysplasie ectodermique euhidrotique |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1007351000172110 |
dysplasie pilo-dentaire |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
906081000172110 |
dysplasie ectodermique euhidrotique |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1007351000172110 |
dysplasie pilo-dentaire |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
544591000274118 |
Ektodermale euhidrotische Dysplasie |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
574871000274119 |
Syndrom mit pilo-dentaler Dysplasie und Refranktionsanomalien |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3409661001000112 |
Dysplasie, pilo-dentale - Refraktionsanomalien |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Pilodental dysplasia, refractive errors syndrome |
Is a |
Congenital anomaly of tooth (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Pilodental dysplasia, refractive errors syndrome |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Pilodental dysplasia, refractive errors syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Ectodermal dysplasia with hair-tooth defects |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Hereditary disorder of the integument (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Pilodental dysplasia, refractive errors syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Digestive system hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Congenital anomaly of hair |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Disorder of refraction |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Finding site |
The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Pilodental dysplasia, refractive errors syndrome |
Finding site |
Hair structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Pilodental dysplasia, refractive errors syndrome |
Finding site |
Skin structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Pilodental dysplasia, refractive errors syndrome |
Finding site |
Tooth structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Pilodental dysplasia, refractive errors syndrome |
Finding site |
Ectoderm structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Pilodental dysplasia, refractive errors syndrome |
Finding site |
Ectoderm structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Pilodental dysplasia, refractive errors syndrome |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Pilodental dysplasia, refractive errors syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Pilodental dysplasia, refractive errors syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Pilodental dysplasia, refractive errors syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Pilodental dysplasia, refractive errors syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Pilodental dysplasia, refractive errors syndrome |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Pilodental dysplasia, refractive errors syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Pilodental dysplasia, refractive errors syndrome |
Associated morphology |
Morphologically abnormal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Pilodental dysplasia, refractive errors syndrome |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Pilodental dysplasia, refractive errors syndrome |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Pilodental dysplasia, refractive errors syndrome |
Is a |
Hereditary disorder of tooth |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|