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75241009: Choroideremia (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
124966010 Choroideremia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
502961016 Choroideraemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
815829015 Choroideremia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499687018 Tapetochoroidal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
872271000172116 choroïdérémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
883391000172114 CHM - choroïdérémie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
648051000274115 Tapetochoroidale Dystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426371001000112 Chorioideremie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Choroideremia Is a Hereditary choroidal dystrophy true Inferred relationship Some
Choroideremia Associated morphology dégénérescence false Inferred relationship Some 1
Choroideremia Finding site Choroidal structure false Inferred relationship Some 1
Choroideremia Associated morphology Atrophy false Inferred relationship Some 1
Choroideremia Associated morphology dégénérescence false Inferred relationship Some 2
Choroideremia Finding site Choroidal structure true Inferred relationship Some 1
Choroideremia Finding site Choroidal structure false Inferred relationship Some 2
Choroideremia Is a Choroidal atrophy false Inferred relationship Some
Choroideremia Is a X-linked hereditary disease false Inferred relationship Some
Choroideremia Associated morphology Degenerative abnormality true Inferred relationship Some 1
Choroideremia Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Total central choroidal atrophy Is a False Choroideremia Inferred relationship Some
Total central choroidal atrophy Is a False Choroideremia Inferred relationship Some
Choroideremia co-occurrent with hypopituitarism Is a False Choroideremia Inferred relationship Some
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Is a True Choroideremia Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Is a True Choroideremia Inferred relationship Some
Choroideremia of bilateral eyes (disorder) Is a True Choroideremia Inferred relationship Some

This concept is not in any reference sets

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