721232000: Hydrolethalus syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Foetal finding\Foetal disorder\...
• \Disorder of fetal structure\Hydrolethalus syndrome (disorder)
• \Fetus with hereditary disease\Hydrolethalus syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hydrolethalus syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Fetus with hereditary disease\Hydrolethalus syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hydrolethalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Foetal disorder\Disorder of fetal structure\Hydrolethalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Foetal disorder\Fetus with hereditary disease\Hydrolethalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of fetal structure\Hydrolethalus syndrome (disorder)
• \Disease\Developmental disorder (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
5402660019	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402661015	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324496018	Hydrolethalus syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
3324717013	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’ survival have been reported.	en	Definition	Active	Entire term case sensitive (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
5402660019	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402661015	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3449361001000113	Hydroletalus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6305951000241110	hydroléthalus	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6305951000241110	hydroléthalus	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449361001000113	Hydroletalus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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