702367005: genitopatellasyndroom (aandoening)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Genitopatellar syndrome

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Genitopatellar syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Genitopatellar syndrome

\Developmental disorder\Developmental hereditary disorder\Genitopatellar syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Genitopatellar syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995329013 Genitopatellar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995409013 Genitopatellar syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6841921000146111 syndroom van afwezige patella, scrotale hypoplasie, renale anomalieën, faciale dysmorfie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6998211000146115 genitopatellasyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6998221000146113 genitopatellasyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genitopatellar syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Genitopatellar syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Genitopatellar syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Genitopatellar syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Genitopatellar syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Genitopatellar syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Genitopatellar syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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Active

Source

Characteristic

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Group

This concept is not in any reference sets