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


Status: current, Primitive. 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 Active Case sensitive SNOMED CT core
2995512014 Congenital cataracts, facial dysmorphism and neuropathy en Synonym Active Case insensitive SNOMED CT core
2995780011 Congenital cataracts, facial dysmorphism and neuropathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataracts, facial dysmorphism and neuropathy Finding site Eye structure true Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Pathological process 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 Pathological developmental process true Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Is a Developmental hereditary disorder true Inferred relationship Some
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 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 Developmental abnormality 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 Developmental abnormality 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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