721232000: Hydrolethalus syndrome (disorder)

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3324712019	Hydrolethalus syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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