Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3728131018 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728132013 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728133015 |
MOMES syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3727986015 |
A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3728131018 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728132013 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3728133015 |
MOMES syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3727986015 |
A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
545481000274117 |
MOMES-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3415461001000110 |
Intelligenzminderung-Adipositas-Prognathie-Augen- und Hautanomalien-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
883511000172110 |
syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5677231000241119 |
syndrome MOMES |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
883511000172110 |
syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
961631000172113 |
syndrome MOMES ( intellectual disability, obesity, prognathism, eye and skin anomalies) |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
5677231000241119 |
syndrome MOMES |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
545481000274117 |
MOMES-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3415461001000110 |
Intelligenzminderung-Adipositas-Prognathie-Augen- und Hautanomalien-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 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Hereditary disorder of the visual system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Finding site |
Face structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Hereditary disorder of the integument (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Interprets |
Measured body weight (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Congenital anomaly of visual system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Congenital anomaly of skin (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Finding site |
Skin structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Finding site |
Eye region structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Obesity |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Disorder of eye region |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Has interpretation |
Above reference range |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|