Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
17732019 |
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
17734018 |
BADS syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
533081010 |
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
17732019 |
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
17734018 |
BADS syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
533081010 |
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
637891000274118 |
O'Doherty-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
637901000274117 |
Kutaner Albinismus, Hermelin-Phänotyp |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5739761000241118 |
mèches noires, albinisme oculocutané et surdité neurosensorielle |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5739761000241118 |
mèches noires, albinisme oculocutané et surdité neurosensorielle |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
637891000274118 |
O'Doherty-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
637901000274117 |
Kutaner Albinismus, Hermelin-Phänotyp |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3425961001000112 |
Albinismus, kutaner, Hermelin-Phänotyp |
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 |
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Oculocutaneous albinism |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Congenital deficiency |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Structure of skin region (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Eye structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Congenital hypopigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Skin structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Congenital hypopigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Disorder of inner ear (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Hearing loss associated with syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Auditory system hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Finding of lesion (finding) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Sensorineural hearing loss |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Skin structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Interprets |
Ability to hear (observable entity) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Decreased melanin pigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Inner ear structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Globe finding (finding) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Ear structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Eye structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Skin structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Congenital hypopigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Decreased melanin pigmentation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Interprets |
Hearing |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Congenital hearing disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Decreased melanin pigmentation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Congenital hypopigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Skin structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Decreased melanin pigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Interprets |
entité observable fonctionnelle |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Eye structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Hypopigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Associated morphology |
Hypopigmentation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
Structure of auditory system (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Is a |
Congenital sensorineural hearing loss (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|