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774102003: syndroom van verstandelijke beperking, obesitas, prognathie en afwijkingen van oog en huid (aandoening)


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
6771621000146116 syndroom van mentale retardatie, obesitas, prognathie en afwijkingen van oog en huid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6942281000146119 MOMES-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7496131000146115 syndroom van verstandelijke beperking, obesitas, prognathie en afwijkingen van oog en huid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7717441000146111 syndroom van verstandelijke beperking, obesitas, prognathie en afwijkingen van oog en huid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7860501000146110 syndroom van verstandelijke handicap, obesitas, prognathie en afwijkingen van oog en huid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Finding site Face structure true Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a 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) Is a Hereditary disorder of the integument true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Interprets Body weight measure true Inferred relationship Some 4
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a Congenital anomaly of visual system true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Occurrence Congenital 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) Finding site Skin structure true Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Finding site Eye region structure (body structure) true Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a Obesity (disorder) true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a Disorder of eye region (disorder) true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 4
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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