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725463007: Severe congenital hypochromic anemia with ringed sideroblasts (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
3443260018 Severe congenital hypochromic anemia with ringed sideroblasts (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443261019 Severe congenital hypochromic anemia with ringed sideroblasts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443262014 Severe congenital hypochromic anaemia with ringed sideroblasts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443263016 Severe congenital hypochromic sideroblastic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443264010 Severe congenital hypochromic sideroblastic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403482014 STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403483016 STEAP3/TSAP6-related sideroblastic anaemia is a very rare severe non-syndromic hypochromic anaemia, which is characterised by transfusion-dependent hypochromic, poorly regenerative anaemia, iron overload, resembling non-syndromic sideroblastic anaemia except for increased erythrocyte protoporphyrin levels. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443260018 Severe congenital hypochromic anemia with ringed sideroblasts (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443261019 Severe congenital hypochromic anemia with ringed sideroblasts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443262014 Severe congenital hypochromic anaemia with ringed sideroblasts en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443263016 Severe congenital hypochromic sideroblastic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443264010 Severe congenital hypochromic sideroblastic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443265011 A very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443266012 A very rare severe non-syndromic hypochromic anaemia, which is characterised by transfusion-dependent hypochromic, poorly regenerative anaemia, iron overload, resembling non-syndromic sideroblastic anaemia except for increased erythrocyte protoporphyrin levels. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403482014 STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403483016 STEAP3/TSAP6-related sideroblastic anaemia is a very rare severe non-syndromic hypochromic anaemia, which is characterised by transfusion-dependent hypochromic, poorly regenerative anaemia, iron overload, resembling non-syndromic sideroblastic anaemia except for increased erythrocyte protoporphyrin levels. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3393691001000113 Schwere kongenitale hypochrome Anämie mit beringten Sideroblasten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
888971000172118 anémie hypochrome congénitale sévère avec sidéroblastes en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
937311000172114 anémie hypochrome congénitale sévère avec sidéroblastes en couronne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
888971000172118 anémie hypochrome congénitale sévère avec sidéroblastes en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
937311000172114 anémie hypochrome congénitale sévère avec sidéroblastes en couronne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393691001000113 Schwere kongenitale hypochrome Anämie mit beringten Sideroblasten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe congenital hypochromic anaemia with ringed sideroblasts Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Severe congenital hypochromic anaemia with ringed sideroblasts Is a Sideroblastic anemia true Inferred relationship Existential restriction modifier (core metadata concept)
Severe congenital hypochromic anaemia with ringed sideroblasts Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe congenital hypochromic anaemia with ringed sideroblasts Interprets Red blood cell count true Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe congenital hypochromic anaemia with ringed sideroblasts Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe congenital hypochromic anaemia with ringed sideroblasts Interprets Measurement of total haemoglobin concentration true Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe congenital hypochromic anaemia with ringed sideroblasts Is a Hemoglobin below reference range (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe congenital hypochromic anaemia with ringed sideroblasts Is a Red blood cell count below reference range true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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