Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3498665018 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498666017 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5403707017 |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403708010 |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterised by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3498665018 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3498666017 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3499955019 |
Syndrome with characteristics of telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers. Radiographic findings including flared metaphyses of the long bones and osteopenia. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403707017 |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5403708010 |
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterised by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
603011000274119 |
Syndrom mit Telekanthus, Hypertelorismus, Strabismus und Pes cavus |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3395291001000110 |
Telekanthus - Hypertelorismus - Strabismus - Pes cavus |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
985261000172117 |
syndrome de télécanthus-hypertélorisme-strabisme-pied creux |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
985261000172117 |
syndrome de télécanthus-hypertélorisme-strabisme-pied creux |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
603011000274119 |
Syndrom mit Telekanthus, Hypertelorismus, Strabismus und Pes cavus |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3395291001000110 |
Telekanthus - Hypertelorismus - Strabismus - Pes cavus |
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 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Is a |
Hypertelorism |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial-limb defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Is a |
Congenital anomaly of eyelid |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Is a |
Congenital strabismus |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Is a |
Congenital pes cavus |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Is a |
Telecanthus (finding) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Interprets |
Form of foot |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Associated morphology |
Congenital deformity |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Finding site |
Musculoskeletal structure of foot |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Finding site |
Sphenoid bone structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Finding site |
Structure of palpebral fissure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Is a |
Congenital deformity of foot (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Associated morphology |
Claw-shaped deformity (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Finding site |
Foot structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Finding site |
Sphenoid bone structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Finding site |
Structure of palpebral fissure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Associated morphology |
Deformity (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|