199531009: Fetus with hereditary disease (disorder)

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

\Fetal finding\Fetal disorder\Fetus with hereditary disease

\Disease\Genetic disease\Hereditary disease\Fetus with hereditary disease
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Fetus with hereditary disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

306590012 Fetus with hereditary disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

584171016 Fetus with hereditary disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3011641019 Foetus with hereditary disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1681981000005116 foster med hereditær sygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fetus with hereditary disease	Is a	kendt føtal abnormitet eller mistanke derom	false	Inferred relationship	Some
Fetus with hereditary disease	Occurrence	Fetal period	false	Inferred relationship	Some
Fetus with hereditary disease	Finding site	Fetal structure	false	Inferred relationship	Some
Fetus with hereditary disease	Occurrence	Congenital	false	Inferred relationship	Some
Fetus with hereditary disease	Occurrence	Fetal period	true	Inferred relationship	Some	1
Fetus with hereditary disease	Is a	Hereditary disease	true	Inferred relationship	Some
Fetus with hereditary disease	Is a	Fetal disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
foster med hereditær sygdom, barn født	Is a	False	Fetus with hereditary disease	Inferred relationship	Some
foster med hereditær sygdom med prænatalt problem	Is a	False	Fetus with hereditary disease	Inferred relationship	Some
foster med hereditær sygdom, uspecificeret	Is a	False	Fetus with hereditary disease	Inferred relationship	Some
foster med hereditær sygdom, ikke nærmere specificeret	Is a	False	Fetus with hereditary disease	Inferred relationship	Some
A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. Caused by deletion or inactivation of all four alpha-globin alleles leading to a severe deficiency in alpha-globin chains of Hb, and to the production of gamma-4 tetramers (Hb Bart's) during fetal life, and beta-4 tetramers (HbH) postnatally. Hb Bart's and HbH have increased oxygen affinity resulting in ineffective tissue oxygen delivery. The disease is mostly the result of combined, biallelic deletions in the HBA1 and HBA2 genes (16p13.3). The pattern of inheritance is autosomal recessive.	Is a	True	Fetus with hereditary disease	Inferred relationship	Some
Bartter syndrome antenatal type 1 (disorder)	Is a	True	Fetus with hereditary disease	Inferred relationship	Some
Bartter syndrome antenatal type 2 (disorder)	Is a	True	Fetus with hereditary disease	Inferred relationship	Some
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	Is a	True	Fetus with hereditary disease	Inferred relationship	Some
Fetal cystic fibrosis (disorder)	Is a	True	Fetus with hereditary disease	Inferred relationship	Some
Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.	Is a	True	Fetus with hereditary disease	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	Is a	True	Fetus with hereditary disease	Inferred relationship	Some
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.	Is a	True	Fetus with hereditary disease	Inferred relationship	Some

This concept is not in any reference sets