Hereditary methaemoglobinaemia (Q39674): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (7 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
Metemoglobinemia hereditária é um transtorno raro da hemácia classificada principalmente em dois fenótipos clínicos: metemoglobinemia congênita autossômica recessiva (ou hereditária) tipos I e II (RCM/RHM tipo I; RCM/RHM tipo 2). Na RCM tipo 1, cianose bem tolerada desde o nascimento é o único sintoma. RCM tipo 2, com perda global da função do Cb5R, é muito mais grave; a cianose é acompanhada por disfunção neurológica (com déficit intelectual, microcefalia, retardo do crescimento, opistótono, estrabismo e hipertonia), que geralmente se torna evidente durante os primeiros quatro meses de vida. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, 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. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/586921197 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:3A92 | |||||||||||||||
| Property / CURIE: CID11:3A92 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-3A92 | |||||||||||||||
| Property / Canary Token: dki-india-3A92 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Linked ICD 10 | |||||||||||||||
| Property / Linked ICD 10: D74.0 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 05:11, 13 August 2026
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A92 |
||
| English | Hereditary methaemoglobinaemia |
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, 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. |
Statements
CID11:3A92
0 references
dki-india-3A92
0 references
Concluído
0 references
13 August 2026
0 references
