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774102003: Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3728132013 Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome en Synonym Active Case insensitive SNOMED CT core
3728133015 MOMES syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Is a Hereditary disorder of the visual system true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Finding site Face structure true Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Interprets Body weight measure true Inferred relationship Some 4
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Congenital anomaly of visual system true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence Congenital true Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Congenital anomaly of skin true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence Congenital true Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Finding site Skin structure true Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Intellectual disability true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Finding site Eye region structure true Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Obesity true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Disorder of eye region true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Occurrence Congenital true Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Has interpretation Above reference range true Inferred relationship Some 4
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Interprets Intellectual ability true Inferred relationship Some 5
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Has interpretation Impaired true Inferred relationship Some 5
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Interprets Adaptation behaviour true Inferred relationship Some 6
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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