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702433001: Congenital cataracts, facial dysmorphism and neuropathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2995306017 CCFDN - congenital cataracts, facial dysmorphism and neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995512014 Congenital cataracts, facial dysmorphism and neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995780011 Congenital cataracts, facial dysmorphism and neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5449021000241116 cataracte congénitale, dysmorphie faciale et neuropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataracts, facial dysmorphism and neuropathy Is a Congenital anomaly of eye true Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a Congenital anomaly of the peripheral nervous system true Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a Hereditary disorder of nervous system true Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Finding site Peripheral nervous system structure false Inferred relationship Some 3
Congenital cataracts, facial dysmorphism and neuropathy Occurrence Congenital false Inferred relationship Some 3
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital cataracts, facial dysmorphism and neuropathy Occurrence Congenital true Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Finding site Eye structure false Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Finding site Peripheral nervous system structure true Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Finding site Eye structure true Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Occurrence Congenital true Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Is a Developmental hereditary 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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