Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3775321017 |
Osteopathia striata, pigmentary dermopathy, white forelock syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3775322012 |
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3775323019 |
Whyte Murphy syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3775324013 |
Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3775321017 |
Osteopathia striata, pigmentary dermopathy, white forelock syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3775322012 |
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3775323019 |
Whyte Murphy syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3775324013 |
Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
1053181000195113 |
Osteopathia striata - Hyperpigmentierung - weisse Stirnlocke |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5593021000241119 |
syndrome d'ostéopathie striée, hyperpigmentation et mèche blanche |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5593021000241119 |
syndrome d'ostéopathie striée, hyperpigmentation et mèche blanche |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1053181000195113 |
Osteopathia striata - Hyperpigmentierung - weisse Stirnlocke |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3440541001000112 |
Osteopathia striata - Hyperpigmentierung - weiße Stirnlocke |
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 |
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Is a |
White forelock |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Is a |
Osteopathia striata |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Finding site |
Hair structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Finding site |
Bone structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Is a |
Inherited cutaneous hyperpigmentation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Is a |
Congenital anomaly of hair |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Has interpretation |
Above reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Interprets |
Bone density scan |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Associated morphology |
Hyperpigmentation (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Finding site |
Skin structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|