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1255268002: oculocerebrodentaal syndroom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5145775012 Oculocerebrodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5145776013 Oculocerebrodental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5145777016 Oculo-cerebro-dental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13952841000146119 oculocerebrodentaal syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13952851000146116 oculocerebrodentaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5145779018 A rare ciliopathy with characteristics of congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges and retrognathia) and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. 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
Oculocerebrodental syndrome Is a Hereditary disorder of tooth true Inferred relationship Some
Oculocerebrodental syndrome Is a Short stature disorder true Inferred relationship Some
Oculocerebrodental syndrome Is a Developmental delay true Inferred relationship Some
Oculocerebrodental syndrome Is a Dysplasia with defective mineralization true Inferred relationship Some
Oculocerebrodental syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Oculocerebrodental syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Oculocerebrodental syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Oculocerebrodental syndrome Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Oculocerebrodental syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Oculocerebrodental syndrome Is a Congenital cataract true Inferred relationship Some
Oculocerebrodental syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Oculocerebrodental syndrome Interprets Body height measure (observable entity) true Inferred relationship Some 6
Oculocerebrodental syndrome Has interpretation Below reference range true Inferred relationship Some 6
Oculocerebrodental syndrome Occurrence Congenital true Inferred relationship Some 1
Oculocerebrodental syndrome Finding site Lens clear true Inferred relationship Some 1
Oculocerebrodental syndrome Associated morphology Opacity true Inferred relationship Some 1
Oculocerebrodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculocerebrodental syndrome Occurrence Congenital true Inferred relationship Some 2
Oculocerebrodental syndrome Finding site Bone structure true Inferred relationship Some 2
Oculocerebrodental syndrome Associated morphology Impaired mineralization true Inferred relationship Some 2
Oculocerebrodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculocerebrodental syndrome Occurrence Congenital true Inferred relationship Some 3
Oculocerebrodental syndrome Finding site Bone structure true Inferred relationship Some 3
Oculocerebrodental syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Oculocerebrodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oculocerebrodental syndrome Occurrence Congenital true Inferred relationship Some 4
Oculocerebrodental syndrome Finding site Tooth structure true Inferred relationship Some 4
Oculocerebrodental syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Oculocerebrodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Oculocerebrodental syndrome Occurrence Congenital true Inferred relationship Some 5
Oculocerebrodental syndrome Finding site Face structure true Inferred relationship Some 5
Oculocerebrodental syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Oculocerebrodental syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Oculocerebrodental syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Oculocerebrodental syndrome Is a Disorder of brain (disorder) true Inferred relationship Some
Oculocerebrodental syndrome Occurrence Congenital true Inferred relationship Some 7
Oculocerebrodental syndrome Finding site Cerebrum true Inferred relationship Some 7
Oculocerebrodental syndrome Is a Congenital neurological disorder (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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