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721232000: Hydrolethalus syndrome (disorder)

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

\Fetal finding\Fetal 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\Fetal disorder\Disorder of fetal structure\Hydrolethalus syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Fetus with hereditary disease\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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydrolethalus syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hydrolethalus syndrome (disorder)	Is a	Multiple congenital anomalies of fetus	false	Inferred relationship	Some
Hydrolethalus syndrome (disorder)	Occurrence	Fetal period	false	Inferred relationship	Some	2
Hydrolethalus syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Hydrolethalus syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Hydrolethalus syndrome (disorder)	Finding site	Fetal structure	false	Inferred relationship	Some	2
Hydrolethalus syndrome (disorder)	Finding site	Fetal structure	false	Inferred relationship	Some	1
Hydrolethalus syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Hydrolethalus syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hydrolethalus syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Hydrolethalus syndrome (disorder)	Is a	Disorder of fetal structure	true	Inferred relationship	Some
Hydrolethalus syndrome (disorder)	Occurrence	Fetal period	true	Inferred relationship	Some	1
Hydrolethalus syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hydrolethalus syndrome (disorder)	Is a	Fetus with hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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