Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
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 |
772251000241119 | syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 Common French translation module (core metadata concept) |
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 Common French translation module (core metadata concept) |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | interprète (attribut) | mesure du poids corporel | true | Inferred relationship | Some | 4 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skin | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | localisation d'une constatation (attribut) | Eye region structure (body structure) | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Obesity (disorder) | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Disorder of eye region (disorder) | true | Inferred relationship | Some | ||
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 4 | |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets