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267550008: Congenital methemoglobinemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
399255019 Congenital methemoglobinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
399256018 Congenital methaemoglobinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660181015 Congenital methemoglobinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5460290017 Hereditary methemoglobinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5460291018 Hereditary methemoglobinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital methemoglobinemia Is a Methemoglobinemia true Inferred relationship Some
Congenital methemoglobinemia Finding site Erythrocyte (cell) true Inferred relationship Some 2
Congenital methemoglobinemia Finding site Hematopoietic system structure false Inferred relationship Some
Congenital methemoglobinemia Finding site Hematopoietic system structure false Inferred relationship Some
Congenital methemoglobinemia Is a Congenital anomaly of the hematopoietic system false Inferred relationship Some
Congenital methemoglobinemia Occurrence Congenital true Inferred relationship Some 1
Congenital methemoglobinemia Is a Congenital disease true Inferred relationship Some
Congenital methemoglobinemia Has definitional manifestation Red blood cell finding false Inferred relationship Some
Congenital methemoglobinemia Is a Hereditary red blood cell disorder (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital methaemoglobinaema with defective methaemoglobin-reducing system Is a True Congenital methemoglobinemia Inferred relationship Some
Congenital methemoglobinemia with abnormal methemoglobins Is a False Congenital methemoglobinemia Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type Is a False Congenital methemoglobinemia Inferred relationship Some
Hemoglobin M disease Is a True Congenital methemoglobinemia Inferred relationship Some
A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site. Is a True Congenital methemoglobinemia Inferred relationship Some

This concept is not in any reference sets

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