199531009: Fetal hereditary disease (disorder)

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

\Fetal finding\Fetal disorder\Fetal hereditary disease

\Disease\Genetic disease\Hereditary disease\Fetal hereditary disease
\Disease\Fetal and/or neonatal disorder\Fetal disorder\Fetal 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

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

5424615012 Fetal hereditary disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5424616013 Fetal hereditary disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5437930016 Hereditary disorder of fetus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4863061000241115 maladie héréditaire du foetus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fetal hereditary disease	Is a	anomalie fœtale connue ou suspectée	false	Inferred relationship	Some
Fetal hereditary disease	Occurrence	Fetal period	false	Inferred relationship	Some
Fetal hereditary disease	Finding site	Fetal structure	false	Inferred relationship	Some
Fetal hereditary disease	Occurrence	Congenital	false	Inferred relationship	Some
Fetal hereditary disease	Occurrence	Fetal period	true	Inferred relationship	Some	1
Fetal hereditary disease	Is a	Hereditary disease	true	Inferred relationship	Some
Fetal hereditary disease	Is a	Fetal disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fetus with hereditary disease - delivered	Is a	False	Fetal hereditary disease	Inferred relationship	Some
fœtus avec problème prénatal et maladie héréditaire	Is a	False	Fetal hereditary disease	Inferred relationship	Some
Fetus with hereditary disease unspecified	Is a	False	Fetal hereditary disease	Inferred relationship	Some
Fetus with hereditary disease NOS	Is a	False	Fetal 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.	Is a	True	Fetal hereditary disease	Inferred relationship	Some
Bartter syndrome antenatal type 1 (disorder)	Is a	True	Fetal hereditary disease	Inferred relationship	Some
Bartter syndrome antenatal type 2 (disorder)	Is a	True	Fetal 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	Fetal hereditary disease	Inferred relationship	Some
Fetal cystic fibrosis (disorder)	Is a	True	Fetal 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	Fetal 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	Fetal 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	Fetal hereditary disease	Inferred relationship	Some
Fetal hereditary disease suspected	Associated finding	True	Fetal hereditary disease	Inferred relationship	Some	1

This concept is not in any reference sets