Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3319049016 |
Scalp, ear, nipple syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3326468014 |
Scalp, ear, nipple syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3326469018 |
Finlay Marks syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402736014 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402737017 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Scalp, ear, nipple syndrome (disorder) |
Is a |
Ectodermal dysplasia |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Disorder of pinna |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Congenital absence of nipple |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Disorder of scalp |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Aplasia of skin |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Congenital abnormality of external ear |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Auditory system hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Hereditary disorder of the integument |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Disorder of skin of head (disorder) |
true |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
4 |
|
Scalp, ear, nipple syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
5 |
|
Scalp, ear, nipple syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
6 |
|
Scalp, ear, nipple syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Some |
7 |
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Congenital hypoplasia |
false |
Inferred relationship |
Some |
4 |
|
Scalp, ear, nipple syndrome (disorder) |
Finding site |
Pinna structure |
true |
Inferred relationship |
Some |
4 |
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Congenital dysplasia |
false |
Inferred relationship |
Some |
7 |
|
Scalp, ear, nipple syndrome (disorder) |
Finding site |
Ectoderm structure |
false |
Inferred relationship |
Some |
7 |
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Aplasia |
false |
Inferred relationship |
Some |
6 |
|
Scalp, ear, nipple syndrome (disorder) |
Finding site |
Skin structure of scalp (body structure) |
false |
Inferred relationship |
Some |
6 |
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Congenital absence (morphologic abnormality) |
false |
Inferred relationship |
Some |
5 |
|
Scalp, ear, nipple syndrome (disorder) |
Finding site |
Nipple structure |
false |
Inferred relationship |
Some |
5 |
|
Scalp, ear, nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
3 |
|
Scalp, ear, nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
4 |
|
Scalp, ear, nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
3 |
|
Scalp, ear, nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
1 |
|
Scalp, ear, nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
2 |
|
Scalp, ear, nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Some |
2 |
|
Scalp, ear, nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Scalp, ear, nipple syndrome (disorder) |
Finding site |
Nipple structure |
true |
Inferred relationship |
Some |
1 |
|
Scalp, ear, nipple syndrome (disorder) |
Finding site |
Ectoderm structure |
true |
Inferred relationship |
Some |
3 |
|
Scalp, ear, nipple syndrome (disorder) |
Finding site |
Skin structure of scalp (body structure) |
true |
Inferred relationship |
Some |
2 |
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Aplasia |
true |
Inferred relationship |
Some |
2 |
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Genodermatosis |
false |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Congenital ectodermal defect |
false |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Congenital abnormality of nipple |
false |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Dysplasia |
true |
Inferred relationship |
Some |
3 |
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Some |
4 |
|
Scalp, ear, nipple syndrome (disorder) |
Associated morphology |
Absence (morphologic abnormality) |
true |
Inferred relationship |
Some |
1 |
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Congenital absence of breast |
false |
Inferred relationship |
Some |
|
|
Scalp, ear, nipple syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Some |
|
|