232059000: Laurence-Moon syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Laurence-Moon syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Laurence-Moon syndrome

\Mental disorder\Developmental mental disorder\Intellectual disability\Laurence-Moon syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Laurence-Moon syndrome

\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Laurence-Moon syndrome
\Developmental disorder\Developmental hereditary disorder\Laurence-Moon syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Laurence-Moon syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

347710015 Laurence-Moon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

620075014 Laurence-Moon syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

298981000052117 Laurence-Moons syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Laurence-Moon syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Laurence-Moon syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Laurence-Moon syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Laurence-Moon syndrome	Is a	mental retardation	false	Inferred relationship	Some
Laurence-Moon syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Laurence-Moon syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Laurence-Moon syndrome	Finding site	Brain structure	false	Inferred relationship	Some
Laurence-Moon syndrome	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Laurence-Moon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Laurence-Moon syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Laurence-Moon syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Laurence-Moon syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Laurence-Moon syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Laurence-Moon syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set