721232000: Hydrolethalus syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Fetal finding\Fetal disorder\Disorder of fetal structure\Hydrolethalus syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hydrolethalus syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hydrolethalus syndrome (disorder)
• \Disease\Disorder of fetus or newborn (disorder)\Fetal disorder\Disorder of fetal structure\Hydrolethalus syndrome (disorder)
• \Disease\Developmental disorder\Disorder of fetal structure\Hydrolethalus syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Hydrolethalus syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324496018	Hydrolethalus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324712019	Hydrolethalus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4361395014	A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months of survival have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3886531000052111	hydroletalussyndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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