Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3736335017 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3736336016 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3736335017 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3736336016 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3452151001000115 |
Kolobomatöse Mikrophtalmie-Adipositas-Hypogenitalismus-Intelligenzminderung-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
881911000172119 |
syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
881911000172119 |
syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3452151001000115 |
Kolobomatöse Mikrophtalmie-Adipositas-Hypogenitalismus-Intelligenzminderung-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 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Associated morphology |
Congenital smallness |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Finding site |
œil entier |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Hereditary disorder of endocrine system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Interprets |
Measured body weight (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Central obesity |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Reproductive system hereditary disorder (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Congenital anomaly of endocrine gonad (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Finding site |
Gonadal endocrine structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Finding site |
Eye structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Has interpretation |
Above reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Finding site |
Entire eye proper |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Associated morphology |
Abnormal smallness (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|