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718848000: Fried syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3314123013 Fried syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314124019 Fried syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401881019 Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401882014 Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterised by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. 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
Fried syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Fried syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Fried syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Fried syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Fried syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Fried syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
Fried syndrome (disorder) Is a Hydrocephalus true Inferred relationship Some
Fried syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Fried syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Fried syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Fried syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Fried syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Fried syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Fried syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Fried syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 1
Fried syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Fried syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Fried syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Fried syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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