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774102003: syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées (trouble)


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


0 descendants.

Expanded Value Set


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

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