717943008: syndroom van malformatie van hersenen, congenitale hartziekte en postaxiale polydactylie (aandoening)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Brain malformation, congenital heart disease, postaxial polydactyly 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

3324414019 Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3324415018 Brain malformation, congenital heart disease, postaxial polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3324416017 Goossens Devriendt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6596731000146112 Goossens-Devriendt-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6596751000146118 syndroom van Goossens-Devriendt nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6746571000146110 syndroom van hersenmisvorming, aangeboren hartziekte en postaxiale polydactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8182731000146113 syndroom van malformatie van hersenen, congenitale hartziekte en postaxiale polydactylie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8182741000146117 syndroom van malformatie van hersenen, congenitale hartziekte en postaxiale polydactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3324417014 Goossens-Devriendt syndrome has characteristics of intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, brain malformation, abnormal hair with temporal balding and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. 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
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Is a	Congenital heart disease	true	Inferred relationship	Some
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	7
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Heart structure	false	Inferred relationship	Some	7
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Finding site	Heart structure	true	Inferred relationship	Some	2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324414019	Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324415018	Brain malformation, congenital heart disease, postaxial polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324416017	Goossens Devriendt syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6596731000146112	Goossens-Devriendt-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6596751000146118	syndroom van Goossens-Devriendt	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6746571000146110	syndroom van hersenmisvorming, aangeboren hartziekte en postaxiale polydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8182731000146113	syndroom van malformatie van hersenen, congenitale hartziekte en postaxiale polydactylie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8182741000146117	syndroom van malformatie van hersenen, congenitale hartziekte en postaxiale polydactylie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3324417014	Goossens-Devriendt syndrome has characteristics of intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, brain malformation, abnormal hair with temporal balding and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core