Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3724869019 |
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3724870018 |
Dinno syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3724872014 |
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3724873016 |
Contractures, webbed neck, micrognathia, hypoplastic nipples syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3724871019 |
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3724869019 |
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3724870018 |
Dinno syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3724872014 |
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3724873016 |
Contractures, webbed neck, micrognathia, hypoplastic nipples syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3724871019 |
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3396861001000113 |
Kontrakturen-Pterygium colli-Mikrognathie-hypoplastische Mamillen-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6357231000241113 |
syndrome de contractures, Pterygium colli, micrognathi et mamelons hypoplasiques |
fr |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6357241000241115 |
syndrome de Dinno |
fr |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6357231000241113 |
syndrome de contractures, Pterygium colli, micrognathi et mamelons hypoplasiques |
fr |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6357241000241115 |
syndrome de Dinno |
fr |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3396861001000113 |
Kontrakturen-Pterygium colli-Mikrognathie-hypoplastische Mamillen-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 |
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Associated morphology |
Congenital webbing |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Hypoplasia of nipple |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Congenital micrognathism |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Neck webbing (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Arthrogryposis |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Finding site |
Skin structure of neck (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Finding site |
Joint structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Finding site |
Nipple structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Associated morphology |
Hypoplasia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Finding site |
Bone structure of mandible |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Associated morphology |
Contracture |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Finding site |
Structure of joint region |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Has interpretation |
Decreased |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Interprets |
Range of joint movement |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Congenital deformity of lower limb (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Congenital deformity of upper limb |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Disorder of elbow |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Disorder of knee (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Longitudinal deficiency of part of limb (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Is a |
Contracture of joint |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Finding site |
Elbow region structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Finding site |
Knee region structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Associated morphology |
Contracture |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|