191201002: Hereditary persistence of fetal hemoglobin (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary persistence of fetal hemoglobin (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary persistence of fetal hemoglobin (disorder)	Is a	Hemoglobinopathy	false	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Finding site	Erythrocyte (cell)	false	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Is a	Hereditary hemoglobinopathy (disorder)	true	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary persistence of fetal hemoglobin (disorder)	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.	Is a	True	Hereditary persistence of fetal hemoglobin (disorder)	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed.	Is a	True	Hereditary persistence of fetal hemoglobin (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
294068017	Hb F disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
294069013	HPFH - Hereditary persistence of fetal hemoglobin	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
294070014	Hereditary persistence of fetal hemoglobin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
294071013	HPFH - Hereditary persistence of fetal haemoglobin	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
294072018	Hereditary persistence of fetal haemoglobin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
574873011	Hereditary persistence of fetal hemoglobin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2793120016	Hereditary persistence of foetal haemoglobin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2793720014	HPFH - Hereditary persistence of foetal haemoglobin	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4848281000241118	hémoglobine foetale persistante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module