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725168006: Aland Islands eye disease (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
3440664017 Aland Islands eye disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440665016 Aland Islands eye disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440666015 Forsius Eriksson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440667012 Forsius Eriksson type ocular albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440668019 An X-linked recessive retinal disease with characteristics of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. A very rare disease originally reported in a family from Aland Island in the Bothnia Sea. Caused by mutations in the CACNA1F gene. Some mutations in CACNAF1 are associated with CSNB2 suggesting allelism of the two disorders. 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
Aland Islands eye disease (disorder) Is a Hereditary retinal dystrophy true Inferred relationship Some
Aland Islands eye disease (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Aland Islands eye disease (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Aland Islands eye disease (disorder) Finding site Retinal structure true Inferred relationship Some 1
Aland Islands eye disease (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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