Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3704790014 |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704791013 |
Thumb deformity, alopecia, pigmentation anomaly syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4213655014 |
Sparse hair, short stature, skin anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704792018 |
A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3704790014 |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704791013 |
Thumb deformity, alopecia, pigmentation anomaly syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
4213655014 |
Sparse hair, short stature, skin anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704792018 |
A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3382071001000113 |
Daumenfehlbildung-Alopezie-Pigmentanomalie-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1009021000172112 |
syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
1009021000172112 |
syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3382071001000113 |
Daumenfehlbildung-Alopezie-Pigmentanomalie-Syndrom |
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 |
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Is a |
Genetic disorder of skin pigmentation (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Is a |
Congenital alopecia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Is a |
Hypoplasia of thumb |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Is a |
Multiple malformation syndrome with limb defect as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Is a |
Inherited cutaneous hyperpigmentation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Is a |
Short stature disorder (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Finding site |
Hair structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Associated morphology |
Congenital absence (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Finding site |
Skin structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Finding site |
Thumb structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Associated morphology |
Hyperpigmentation (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Associated morphology |
Absence (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Thumb deformity, alopecia, pigmentation anomaly syndrome |
Interprets |
Height / growth measure (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|