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733419006: syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499401012 Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499402017 Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
12580471000146117 syndroom van metafysaire dysostose, verstandelijke beperking en geleidingsgehoorverlies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12580491000146118 syndroom van metafysaire dysostose, mentale retardatie en geleidingsgehoorverlies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12580501000146111 syndroom van metafysaire dysostose, verstandelijke handicap en geleidingsgehoorverlies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12849321000146111 syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12849331000146113 syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3499990010 Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. 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
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Metaphyseal chondrodysplasia true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Conductive hearing loss true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a mentale retardatie false Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Congenital hearing disorder false Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Interprets Hearing true Inferred relationship Some 3
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Interprets observatie betreffende functioneren false Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence Congenital false Inferred relationship Some 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Finding site Bone structure false Inferred relationship Some 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence Congenital false Inferred relationship Some 6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Finding site Ear structure false Inferred relationship Some 6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Intellectual disability true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence Congenital true Inferred relationship Some 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Finding site Ear structure true Inferred relationship Some 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence Congenital true Inferred relationship Some 2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Finding site Bone structure true Inferred relationship Some 2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Interprets Height / growth measure true Inferred relationship Some 4
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Has interpretation Impaired true Inferred relationship Some 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Has interpretation Impaired true Inferred relationship Some 6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a Congenital hearing loss (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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