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773398005: Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)

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
3723387016 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723388014 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723389018 Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723390010 A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723387016 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723388014 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723389018 Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723390010 A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3394161001000113 Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996901000172117 syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996901000172117 syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394161001000113 Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Interprets Muscle tone true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Poor muscle tone true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Congenital cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Mitochondrial myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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